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Öğe Cascade screening and treatment of children with familial hypercholesterolemia in Turkey(Walter De Gruyter Gmbh, 2020) Kose, Engin; Kose, Melis; Ozturk, Sureyya Ipek; Ozcan, Esra; Onay, Huseyin; Ozkan, BehzatObjectives: Premature coronary artery disease is the most common preventable cause of death in developed countries, and familial hypercholesterolemia (FH) is the most common monogenetic disorder of lipid metabolism, predisposing for premature coronary artery. FH is the most common preventable cause of death in developed countries. in 2016, the national lipid screening program in school-age children has been started in Turkey. in this study, we aimed to evaluate the efficacy of lipid screening program, lipid-lowering treatments, and the challenges of treatments in children diagnosed with FH. Methods: Patients diagnosed with FH in the pediatric metabolism outpatient clinic were retrospectively evaluated. Changes in lipid profile with dietary interventions and statin treatments were assessed. the results of cascade screening were analyzed. Results: Fifty-one patients diagnosed with FH were enrolled in the study. Twenty-four (47.1%) were female. the mean age of the patients was 9.8 +/- 3.2 years. Heterozygous LDLR gene mutation was detected in all patients. Three novel pathogenic variations were revealed with the genetic investigation. Forty-one (80.4%) patients had high adherence to CHILD-2 dietary recommendations. the mean low-density lipoprotein cholesterol (LDL-C) level decreased by 14.5 +/- 7.6% after dietary intervention. Parents refused to start statin treatment in 8 (15.7%) patients. Statin treatment was initiated to 22 (43.1%) patients. Mean LDL-C level decreased from 204.1 +/- 19.1 mg/dL to 137.0 +/- 13.1 mg/dL. in cascade screening, 7 (13.7%) parents without a diagnosis of FH were diagnosed with FH. After the screening program, statin treatment was initiated for 18 (35.3%) parents and 7 (16.3%) siblings. Conclusions: We can conclude that screening for FH in children is crucial for diagnosing FH not only in children but also in their relatives. Although statins are safe and effective in achieving the target LDL-C level, we determined significant resistance for initiating statin treatment in patients.Öğe Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey(Walter De Gruyter Gmbh, 2019) Kisa, Pelin Teke; Kose, Melis; Unal, Ozlem; Er, Esra; Hismi, Burcu Ozturk; Bulbul, Fatma Selda; Kose, Engin; Gunduz, Mehmet; Canda, Ebru; Kucukcongar, Aynur; Arslan, NurClassical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5-20), while the median age at diagnosis was 30 days (range 17-53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.Öğe Clinical, Neuroimaging, and Genetic Features of the Patients with L-2-Hydroxyglutaric Aciduria(Galenos Yayincilik, 2018) Canda, Ebru; Kose, Melis; Yazici, Havva; Er, Esra; Eraslan, Cenk; Ucar, Sema Kalkan; Habif, Sara; Karaca, Emin; Onay, Huseyin; Özkınay, Ferda; Coker, MahmutAim: L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. Materials and Methods: Here we discuss the clinical and molecular characteristics in patients with L2HGA. Results: There ware eight patients with L2HGA. Their median age was 16(9.5-37) years. Five of them ware female and three of them were male. The main symptoms of the patients were psychomotor retardation (8/8), cerebellar ataxia (5/8), extrapyramidal symptoms (7/8) and seizures (4/8). All patients had behavioral problems. Elevated urinary L-2-hydroxy (L-2-OH} glutaric acid was detected and the median level of urine L-2-OH glutaric acid at diagnosis was 146(60-1460 nmol/mol creat). Characteristic magnetic resonance imaging findings including subcortical cerebral white matter abnormalities with T2 hyperintensities of the dentate nucleus, globus pallidus and putamen were detected. Two patients had homozygous R335X, two patients had homozygous R2820, two patients had homozygous R302L and one patient had compound heterozygous P302L/A64T mutation in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Conclusion: Because of the slow progression of the disease, the diagnosis of the patients is usually belated L2HGA must be considered in the differential diagnosis based on clinical findings and specific findings in cranial magnetic resonance imaging. In our study, one of our patients has a novel mutation.Öğe Congenital Disorder of Glycosylation: Clinical and Molecular Characteristics of 9 Patients from Turkey(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2020) Kose, Melis; Kose, Engin; Kagnici, Mehtap; Tekin, Hande Gazeteci; Ozen, Burcin; Ozdemir, Taha Resid; Unalp, AycanObjective: Congenital defects of glycosylation (CDG) belongs to a group of genetic diseases that lead to impairment in protein, lipid glycosylation and glycosylphosphatidylinositol synthesis. More than 140 types of CDG have been identified and the number is increasing day by day. Since glycosylation is very important for post-translational process and glycosylation is required for half of the proteins in human organism to be able to exert an effect, causes the disease to have an extremely wide clinical spectrum in affected patients. Our aim is to share the clinical features of our patients with CDG and contribute to increase in the awareness of this disease group with highly heterogeneous clinical spectrum. Method: Nine patients from 9 families whose molecular and biochemical diagnosis was confirmed were included in the study. All patients were evaluated by a specialist.in pediatric metabolism Laboratory analysis results and clinical features were obtained from hospital records. Our study presents clinical, biochemical and molecular properties of 9 patients. Results: The patients were detected as having PMM2-CDG (CDG Ia) (n=4), MPI-CDG (CDG Ib) (n=1), ALG3CDG (CDG Id) (n=1), ALG1-CDG (CDG Ik) (n=1), DOLK-CDG (CDG Im) (n=1) and COG4-CDG (CDG IIj) (n=1). Sialotransferrin electrophoresis could be performed in 8 of 9 patients. Six patients were diagnosed using high-throughout next -generation sequencing technologies. in all of our patients previously indentified variants have been detected. Conclusion: Our study is one of the first CDG case series presented in our country. CDG should be kept in mind as an important preliminary diagnosis in patients with multisystemic involvement and neurological findings.Öğe Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application(BMC, 2024) Atik, Tahir; Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Cogulu, Ozgur; Durmaz, Asude; Ozkinay, FerdaNext-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs. The cohort underwent whole exome sequencing (WES) and clinical exome sequencing (CES). Using GATK-gCNV, we identified 12 pathogenic CNVs that correlated with their clinical findings and resulting in a diagnostic yield of 2.67%. Importantly, the study emphasizes the role of CNVs in the etiology of Mendelian disorders and highlights the value of exome sequencing-based CNV analysis in routine diagnostic processes.Öğe Diagnostic yield of next generation sequencingbased copy number variation analysis in Mendelian Disorders(Springernature, 2024) Avci Durmusalioglu, Enise; Isik, Esra; Kose, Melis; Kanmaz, Seda; Aykut, Ayca; Durmaz, Asude; Cogulu, Ozgur[Abstarct Not Available]Öğe Higher levels of CD19(+) leukocytes in Gaucher disease patients as a potential marker for malignancy(Derman Medical Publ, 2018) Dondurmaci, Meral; Canda, Ebru; Kose, Melis; Ucar, Sema Kalkan; Coker, Mahmut; Sagin, Ferhan; Sozmen, Eser Y.Aim: Gaucher disease is an autosomal recessive lysosomal storage disease caused by insufficient glucocerebrosidase activity resulting in accumulation of glucosylceramide, particularly in macrophages. Multiple myeloma and B cell lymphoma are considered to be one of the causes of death from GD in the long term. We aimed to compare cell surface antigens of leukocytes to try to identify a reliable marker for leukocyte infiltration and progression to lymphoid malignancy. Material ve Method: 10 Gaucher disease patients and 20 age-matched healthy controls were included. Leukocytes were collected from whole blood using a Ficoll gradient, stained for specific cell surface antigens (CD33, CD19, CD14, and CD8) and sorted by flow cytometry. Levels of each leukocyte cell surface antigen were expressed as a percentage of leukocytes expressing them. Leukocyte glucocerebrosidase activity was measured by fluorometry. Results: The percentage of CD19+ leukocytes in Gaucher disease patients (8.2 +/- 3.4) was significantly higher than in the control group (4.8 +/- 3.4) (p < 0.05). The percentage of leukocytes expressing CD33 (12.8 +/- 6.6 vs 7.9 +/- 8.0, p=0.077), CD14 (10.6 +/- 4.6 vs 7.1 +/- 6.9, p=0.094) or CD8 (12.7 +/- 5.3 vs 9.8 +/- 5.9, p=0.115) was not significantly higher in patients than in controls. Discussion: The higher levels of CD19+ leukocytes may serve as a useful marker to predict leukocyte infiltration and perhaps also malignancy in Gaucher disease patients. Experimental anti-CD19 drugs are in development for the treatment of B cell cancers, and CD19+ leukocyte levels may also serve as a marker of the response to this treatment.Öğe Neuronal ceroid lipofuscinosis: genetic and phenotypic spectrum of 14 patients from Turkey(Springer-Verlag Italia Srl, 2021) Kose, Melis; Kose, Engin; Unalp, Aycan; Yilmaz, Unsal; Edizer, Selvinaz; Tekin, Hande Gazeteci; Yildirim, Eser SozmenIntroduction and purpose Neuronal ceroid lipofuscinoses (NCLs) is a group of congenital metabolic diseases where the neurodegenerative process with the accumulation of ceroid and lipofuscin autofluorescent storage materials is at the forefront. According to the age of presentation, NCLs are classified as congenital, infantile (INCL), late infantile (LINCL), juvenile (JNCL), and adult (ANCL) NCLs. in our study, it was aimed to discuss the clinical and molecular characteristics of our patients diagnosed with NCL. Material and method This is a descriptive cross-sectional study which was conducted in 14 patients from 10 unrelated families who were diagnosed with different types of NCL based on clinical presentation, neuroimaging, biochemical measurements, and molecular analyses, at the department of pediatric metabolism between June 2015 and June 2020. Results A total of 14 patients were diagnosed with different types of NCL. of those, 4 patients were diagnosed with NCL7 (4/14; 30%), 3/14 (23%) with NCL1, 3/14 (23%) with NCL2, 2/14 (14.2%) with NCL13, and 1/14 (7.1%) with NCL10. Eleven pathogenic variants were detected, 5 of which are novel (c.721G>T [p.Gly241Ter] and c.301G>C [p.Ala146Pro] in MFDS8 gene; c.316C>T [p.Gln106Ter] in PPT1 gene; c.341C>T [p.Ala114Val] in TPP1 gene; c.686A>T [p.Glu229Val] in CTSD gene) Conclusion This study is one of the pioneer comprehensive researches from Turkey that provides information about disease-causing variants and clinical presentation of different and rare types of NCLs. The identification of novel variants and phenotypic expansion is important for genetic counselling in Turkey and expected to improve understanding of NCLs.Öğe One Year Experience of Pheburane (R) (Sodium Phenylbutyrate) Treatment in a Patient with Argininosuccinate Lyase Deficiency(Springer-Verlag Berlin, 2015) Ucar, Sema Kalkan; Ozbaran, Burcu; Altinok, Yasemin Atik; Kose, Melis; Canda, Ebru; Kagnici, Mehtap; Coker, Mahmut; Zschocke, J; Baumgartner, M; Morava, E; Patterson, M; Rahman, S; Peters, VArgininosuccinate lyase deficiency (ASLD) is a urea cycle disorder (UCD) treated with dietary adjustment and nitrogen scavenging agents. "Pheburane (R)" is a new tasteless and odour-free formulation of sodium phenylbutyrate, indicated in the treatment of UCD. A male patient diagnosed with ASLD was put on treatment with the new formulation of sodium phenylbutyrate (granules) for a period of one year, at 500 mg/kg orally in 3 intakes/day. Plasma glutamine, arginine, citrulline, argininosuccinate, serum sodium, potassium, liver function tests and urine orotate all remained unchanged over this period. There was no difference in mean ammonia levels before and after treatment, and no hyperammonemia episode occurred during treatment with Pheburane (R). An improvement in a measurement of quality of life (QOL) was noted after treatment with Pheburane (R) r. Conclusion: Good metabolic control and improved QOL were achieved throughout the treatment period.Öğe A Patient with MSUD: Acute Management with Sodium Phenylacetate/Sodium Benzoate and Sodium Phenylbutyrate(Hindawi Ltd, 2017) Kose, Melis; Canda, Ebru; Kagnici, Mehtap; Ucar, Sema Kalkan; Coker, MahmutIn treatment of metabolic imbalances caused by maple syrup urine disease (MSUD), peritoneal dialysis, and hemofiltration, pharmacological treatments for elimination of toxic metabolites can be used in addition to basic dietary modifications. Therapy with sodium phenylacetate/benzoate or sodium phenylbutyrate (NaPB) in urea-cycle disorder cases has been associated with a reduction in branched-chain amino acid (BCAA) concentrations when the patients are on adequate dietary protein intake. Moreover, NaPB in treatment of MSUD patients is also associated with reduction of BCAA levels in a limited number of cases. However, there are not enough studies in the literature about application and efficacy of this treatment. Our case report sets an example of an alternative treatment's efficacy when extracorporeal procedures are not available due to technical difficulties during attack period of the disease.Öğe Patients with Gaucher type 1: Switching from imiglucerase to miglustat therapy(Academic Press Inc Elsevier Science, 2018) Canda, Ebru; Kose, Melis; Kagnici, Mehtap; Ucar, Sema Kalkan; Sozmen, Eser Y.; Coker, MahmutÖğe Presentation and management of classical urea cycle disorders: lessons from our experience(Dr Behcet Uz Cocuk Hastaliklari Ve Cerrahisi, 2016) Kalkan Ucar, Sema; Canda, Ebru; Kose, Melis; Kaginici, Mehtap; Altun Koroglu, Ozge; Calkavur, Sebnem; Habif, Sara; Coker, MahmutObjective: The urea cycle disorders (UCD) are inherited deficiencies of the enzymes or transport molecules involved in the cellular excretion of excess ammonia produced during protein metabolism. The aim of this study was to evaluate the clinical characteristics and long-term outcome of pediatric patients with UCD seen during childhood. Methods: Clinical characteristics in 13 patients with classical UCD (carbamoyl phosphate synthetase I deficiency (n= 4), argininosuccinate lyase deficiency (n= 4), argininosuccinate synthetase deficiency (n= 3), arginase deficiency (n= 1), and ornithine transcarbamylase deficiency (n= 1)) were defined. The term "neonatal-onset" UCD was used if symptoms occurred within 28 days of life, and "late-onset" if symptoms started after that period. Results: The majority of patients (n= 9) presented with acute metabolic crisis during newborn period. Core clinical phenotype in neonatal-onset UCD included sepsis-like neonatal crisis revealed in patients within 28 days after birth, whereas mental retardation was predominant peculiarity in late-onset UCD emerging more than 28 days after birth. Vomiting and hypotonia were frequently reported in neonatal-onset UCD, and epilepsy with/without movement disorder was found in late-onset UCD patients. For patients with neonatal-onset UCD hyperammonemia was more severe at first diagnosis of the disease, and remained near upper limits of normal during the follow-up period. However, hyperammonemia and metabolic crisis have been reported lomber spinal stenoz frequently in symptomatic patients. A cardinal principal of UCD in acute and long-term management of UCD. Despite these evolving treatment opportunities, still higher mortality rates were found in neonatal-onset UCD (44% (4/9)). Conclusion: Neonatal-onset UCD were generally presents itself as acute onset hyperammonemia during the newborn period. However, neurological manifestations were reportedly more diagnostic in the late-onset UCD. It has been concluded that the basic principles of diagnosis and treatment need to be reorganized to improve recognition and outcome in these diseases.Öğe Single center experience of biotinidase deficiency: 259 patients and six novel mutations(Walter De Gruyter Gmbh, 2018) Canda, Ebru; Yazici, Havva; Er, Esra; Kose, Melis; Basol, Gunes; Onay, Huseyin; Ucar, Sema Kalkan; Habif, Sara; Özkınay, Ferda; Coker, MahmutBackground: Biotinidase deficiency (BD) is an autosomal recessively inherited disorder of biotin recycling. It is classified into two levels based on the biotinidase enzyme activity: partial deficiency (10%-30% enzyme activity) and profound deficiency (0%-10% enzyme activity). The aims of this study were to evaluate our patients with BD, identify the spectrum of biotinidase (BTD) gene mutations in Turkish patients and to determine the clinical and laboratory findings of our patients and their follow-up period. Methods: A total of 259 patients who were diagnosed with BD were enrolled in the study. One hundred and forty-eight patients were male (57.1%), and 111 patients were female (42.9%). Results: The number of patients detected by newborn screening was 221 (85.3%). By family screening, 31 (12%) patients were diagnosed with BD. Seven patients (2.7%) had different initial complaints and were diagnosed with BD. Partial BD was detected in 186 (71.8%) patients, and the profound deficiency was detected in 73 (28.2%) patients. Most of our patients were asymptomatic. The most commonly found variants were p.D444H, p.R157H, c.98_104delinsTCC. The novel mutations which were detected in this study are p.D401N(c.1201G >A), p.A82G (c.245C>G), p.F128S(c.383T>C), c617 619del/TTG (p.Va1207de1), p.A287T(c.859G > A), p.S491H(c.1471A > G). The most common mutation was p.R157H in profound BD and p.D444H in partial BD. All diagnosed patients were treated with biotin. Conclusions: The diagnosis of BD should be based on plasma biotinidase activity and molecular analysis. We determined the clinical and genetic spectra of a large group of patients with BD from Western Turkey. The frequent mutations in our study were similar to the literature. In this study, six novel mutations were described.Öğe SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey(Elsevier, 2020) Kose, Melis; Canda, Ebru; Kagnici, Mehtap; Aykut, Ayca; Adebali, Ogun; Durmaz, Asude; Unalp, AycanIntroduction: Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS). Material-methods: Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded. 10/16 patients were diagnosed using whole-exome sequencing (WES), 4/16 by Sanger sequencing of SURF1, 1/16 via targeted exome sequencing and 1/16 patient with whole-genome sequencing (WGS). The pathogenicity of SURF1 variants was evaluated by phylogenetic studies and modelling on the 3D structure of the SURF1 protein. Results: We identified 16 patients from 14 unrelated families who were either homozygous or compound heterozygous for SURF1 pathogenic variants. Nine different SURF1 variants were detected The c.769G > A was the most common variant with an allelic frequency of 42.8% (12/28), c.870dupT [(p.Lys291*); (8/28 28.5%)], c.169deIG [(p.Glu57 Lysfs*15), (2/24; 7.1%)], c.532 T > A [(p.Tyr178Asn); (2/28, 7.1%)], c.653_654delCT [(p.Pro218Argfs*29); (4/28, 14.2%)] c.595_597de1GGA [(p.Gly199del); (1/28, 3.5%)], c.751 + 1G > A (2/28, 4.1%), c.356C > T [(p.Pro119Leu); (2/28, 3.5%)] were the other detected variants. Two pathogenic variants, C.595_597delGGA and c.356C > T, were detected for the first time. The c.769 G > A variant detected in 6 patients from 5 families was evaluated in terms of phenotype-genotype correlation. There was no definite genotype - phenotype correlation. Conclusions: To date, more than 120 patients of LS with SURF1 pathogenic variants have been reported. We shared the clinical, molecular data and natural course of 16 new SURF1 defect patients from our country. This study is the first comprehensive research from Turkey that provides information about disease-causing variants in the SURF1 gene. The identification of common variants and phenotype of the SURF1 gene is important for understanding SURF1 related LS. Synopsis: SURF1 gene defects are one of the most important causes of LS; patients have a homogeneous clinical and biochemical phenotype.Öğe Two novel mutations in acid alpha-glucosidase gene in two patients with Pompe disease(Walter De Gruyter Gmbh, 2014) Aykut, Ayca; Onay, Huseyin; Kose, Melis; Canda, Ebru Erbas; Karaca, Emin; Coker, Mahmut; Özkınay, FerdaPompe disease is an autosomal recessive lysosomal glycogen storage disorder (GSD) caused by acid alpha-glucosidase (GAA) deficiency. Pompe disease has a broad genotypic and phenotypic spectrum. The infantile-onset form is the most severe form and presents with hypotonia and cardiomyopathy in early infancy. The probands who died were found to have GSD type II based on clinical and biochemical findings. We report two families with Pompe disease in whom the parents' molecular analysis revealed two novel mutations: c.2045A>G (p.Q682R) and c.763C>T (p.Q255X).Öğe The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum(Walter De Gruyter Gmbh, 2021) Kose, Melis; Isik, Esra; Aykut, Ayca; Durmaz, Asude; Kose, Engin; Ersoy, Melike; Diniz, GuldenObjectives: Diagnostic process of mitochondrial disorders (MD) is challenging because of the clinical variability and genetic heterogeneity of these conditions. Next-Generation Sequencing (NGS) technology offers a high-throughput platform for nuclear MD. Methods: We included 59 of 72 patients that undergone WES and targeted exome sequencing panel suspected to have potential PMDs. Patients who were included in the analysis considering the possible PMD were reviewed retrospectively and scored according to the Mitochondrial Disease Criteria Scale. Results: Sixty-one percent of the patients were diagnosed with whole-exome sequencing (WES) (36/59) and 15% with targeted exome sequencing (TES) (9/59). Patients with MD-related gene defects were included in the mito group, patients without MD-related gene defects were included in the nonmito group, and patients in whom no etiological cause could be identified were included in the unknown etiology group. In 11 out of 36 patients diagnosed with WES, a TES panel was applied prior to WES. In 47 probands in 39 genes (SURF1, SDHAF1, MTO1, FBXL4, SLC25A12, GLRX5, C19oRF12, NDUFAF6, DARS2, BOLA3, SLC19A3, SCO1, HIBCH, PDHA1, PDHAX, PC, ETFA, TRMU, TUFM, NDUFS6, WWOX, UBCD TREX1, ATL1, VAC14, GFAP, PLA2G6, TPRKB, ATP8A2, PEX13, IGHMBP2, LAMB2, LPIN1, GFPT1, CLN5, DOLK) (20 mito group, 19 nonmito group) 59 variants (31 mito group, 18 nonmito group) were detected. Seven novel variants in the mito group (SLC25A12, GLRX5, DARS2, SCO1, PC, ETFA, NDUFS6), nine novel variants in the nonmito group (IVD, GCDH, COG4, VAC14, GFAP, PLA2G6, ATP8A2, PEX13, LPIN1) were detected. Conclusions: We explored the feasibility of identifying pathogenic alleles using WES and TES in MD. Our results show that WES is the primary method of choice in the diagnosis of MD until at least all genes responsible for PMD are found and are highly effective in facilitating the diagnosis process.Öğe The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis(Walter De Gruyter Gmbh, 2021) Durmusalioglu, Enise Avci; Isik, Esra; Emecen, Durdugul Ayyildiz; Goksen, Damla; Ozen, Samim; Onay, Huseyin; Kose, MelisObjectives: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the utility of reverse phenotyping. Case presentation: A fifteen-year-old-boy with an initial diagnosis of osteogenesis imperfecta, was referred due to a number of atypical findings accompanying to osteoporosis such as splenomegaly and bicytopenia. A NGS panel (TruSight One Sequencing Panel) was performed and a novel homozygous mutation of c.257G>A (p.Gly86Glu) in the SLC7A7 gene (NM_001126106.2), responsible for LPI, was detected. The diagnosis was confirmed via reverse phenotyping. Conclusions: Reverse phenotyping using a multigene panel shortens the diagnostic process.Öğe The utility of reverse phenotyping: A case of lysinuric protein intolerance presented with childhood osteoporosis [Meeting Abstract](Springernature, 2022) Durmusalioglu, Enise Avci; Isik, Esra; Emecen, Durdugul Ayyildiz; Simsek, Damla Goksen; Ozen, Samim; Onay, Huseyin; Kose, Melis[No Abstract Available]
