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Öğe An additional manifestation in acrocallosal syndrome: Temporal lobe hypoplasia(Medecine Et Hygiene, 2008) Aykut, A.; Cogulu, O.; Ekmekci, A. Y.; Özkınay, FerdaAcrocallosal Syndrome is a rare genetic disorder which is characterized by moderate to severe mental retardation, agenesis or hypoplasia of the corpus callosum and polydactyly of fingers and toes. The spectrum of this syndrome is very variable. Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia are some other common findings in this syndrome. Twenty percent of the patients have associated brain abnormalities such as cerebral atrophy, hypothalamic dysfunction, small cerebrum, micropolygyria, hypoplasia of pons, hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. Here we present a 10-month-old female infant with clinical and radiological findings indicative of acrocallosal syndrome. She was noted to have craniofacial abnormalities suggestive of acrocallosal syndrome, optic atrophy and polydactyly. MRI revealed cerebral atrophy, corpus callosum agenesis, dilated lateral ventricules and unilateral right temporal lobe hypoplasia, the latter not previously reported in the spectrum of this syndrome. Based on this observation we conclude the importance of screening brain abnormalities and present temporal lobe hypoplasia as a new additional anomaly in this syndrome.Öğe Analysis of the CD40 and CD40LG in Turkish Hyper IgM Syndrome: Mutation profile and description of six novel mutations(Nature Publishing Group, 2019) Uzay, E.; Aykut, A.; Durmaz, A.; Karaca, N.; Gulez, N.; Kutukculer, N.; Cogulu, O.[No abstract available]Öğe Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation(Elsevier Science Bv, 2013) Aykut, A.; Karaca, E.; Onay, H.; Ucar, S. Kalkan; Coker, M.; Cogulu, O.; Özkınay, FerdaNiemann-Pick disease (NPD) is a lysosomal storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type A and B is caused by mutations in the sphingomyelin phosphodiesterase gene (SMPD1) coding for ASM. The aim of this study was to evaluate the spectrum of SMPD1 gene mutations in Turkish NPD patients and to study genotype-phenotype associations. We present a molecular analysis of 10 Turkish NPD type A/B patients. Four of the patients had type A and six had type B NPD. All mutant SMPD1 alleles were identified, including 5 different mutations, 1 of which was novel. These mutations included three missense mutations: c.409T>C (p.L137P), c.1262 A>G (p.H421R) and c.1552T>C (p.L549P), a common frameshift mutation in codon 189, identified in three patients, is caused by the deletion of the 567T, introducing a stop codon 65 amino acids downstream (p.P189fsX65), and a novel frameshift mutation c.1755delC (p.P585PfsX24) which was not reported previously. (C) 2013 Published by Elsevier B.V.Öğe A CARDIO-FACIO-CUTANEOUS SYNDROME CASE WITH TIGHT ACHILLES TENDONS(Medecine Et Hygiene, 2012) Hazan, F.; Aykut, A.; Hizarcioglu, M.; Tavli, V.; Onay, H.; Özkınay, FerdaA cardio-facio-cutaneons syndrome case with tight Achilles tendons: Cardio-facio-cutaneous syndrome (CFCS) is a multiple congenital anomaly disorder characterized by craniofacial features, cardiac defects, ectodermal anomalies and neurocognitive delay. Clinical findings of patients with CFCS show similarities to those of patients with Costello Syndrome (CS). CFCS and CS are caused by mutations in genes encoding proteins of the RAS-MAPK signaling pathway. Musculoskeletal findings including tight Achilles tendons and contractures of elbows, shoulders or hips have been reported in CS patients. However, limited extension of joints were observed in some patients with CFCS. According to the literature, no tight Achilles tendons have been reported in CFCS patients so far. In this case report, we present a male CFCS patient with tight Achilles tendons with a de-novo heterozygote N581D mutation in the BRAF gene detected by DNA sequence analysis.Öğe Clinical and molecular aspects of PTEN mutations in pediatric population: A retrospective study(Nature Publishing Group, 2019) Isik, E.; Simsir, O. S.; Onay, H.; Atik, T.; Aykut, A.; Durmaz, A.; Özkınay, Ferda[No abstract available]Öğe Comprehensive targeted next-generation sequencing panel: A rapid diagnostic tool for unraveling primary immunodeficiencies in pediatric patients(Nature Publishing Group, 2018) Aykut, A.; Karaca, N.; Durmaz, A.; Pariltay, E.; Aksu, G.; Kutukculer, N.; Cogulu, O.[No Abstract Available]Öğe Current genetic defects in common variable immunodeficiency patients on the geography between Europe and Asia: a single-center experience(Springer, 2023) Aygun, A.; Topyıldız, E.; Geyik, M.; Karaca, N.E.; Durmaz, A.; Aksu, G.; Aykut, A.Identification of the causes of monogenetic common variable immunodeficiency (CVID) patients has rapidly increased in the last years by means of worldwide availability of appropriate genetic diagnostic methods. However, up to date, very limited numbers of reports demonstrating the role of geography, ethnicity, and consanguinity have been published. Here, we reported the first study of Turkish CVID patients and compared them with the results of three countries from America, Europe, and Asia. A total of 100 children diagnosed as CVID according to the criteria of European Society for Immunodeficiencies were enrolled, and they were genetically analyzed by using targeted next-generation sequencing and whole-exome sequencing. The median age of our patients was 5.8 years (range, 3.0–16.0 years) at clinical diagnosis and 9.0 years (range, 4.8–21.0 years) at the time of genetic diagnosis. The consanguinity rate was 24%. Disease-causing pathogenic variants were defined in 40% of patients in a total of 17 different genes. Sixteen of 40 identified pathogenic variants were novel (40%). We determined 18 surface molecular defects, 10 cytosolic defects, 9 nuclear defects, and 3 others. In our cohort, the most common gene was TACI (15/40 in pathogenic variant identified cases and 15/100 in all cases) followed by the others such as PLC?2, LRBA, TCF3, and STAT1. In contrast to our expectations, our results were more similar to American and European population rather than Asians, although we also have high consanguinity rates and live on the geography between Europe and Asia. Genetic investigation is a great challenge, because of the complexity and heterogeneity of the disease, and each country has to know their own current genetic landscape in CVID for a better and successful management of the patients. © 2023, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.Öğe Cytogenetic analysis of miscarriage materials of couples with recurrent pregnancy loss in a tertiary center(7847050 Canada Inc, 2019) Akin, H.; Karaca, E.; Hortu, I; Bolat, H.; Cengisiz, Z.; Kazandi, M.; Durmaz, B.; Aykut, A.; Durmaz, A.; Cogulu, O.A pregnancy loss (miscarriage) is defined as the spontaneous demise of a pregnancy before the fetus reaches viability. The term therefore includes all pregnancy losses from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss (RPL) is defined as two or more losses of the pregnancy. There are many proposed reasons; however in a prominent portion of cases, the reason remains unclear. Chromosomal abnormalities have an important place in recurrent pregnancy loss. Numerical and structural abnormalities constitute a significant cause. The purpose of this study was to assess the chromosomal abnormality of 490 chorionic villus samples of the couples who experienced RPL and to provide data for both clinicians and genetic counsellorsÖğe DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS(Macedonian Acad Sciences Arts, 2013) Aykut, A.; Onay, H.; Sagol, S.; Gunduz, C.; Özkınay, Ferda; Cogulu, O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample) case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false-positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe DETERMINATION OF FETAL RHESUS D STATUS BY MATERNAL PLASMA DNA ANALYSIS(Macedonian Acad Sciences Arts, 2013) Aykut, A.; Onay, H.; Sagol, S.; Gunduz, C.; Özkınay, Ferda; Cogulu, O.In this study, we assessed the feasibility of fetal RhD genotyping by analysis of cell-free fetal DNA(cffDNA) extracted from plasma samples of Rhesus (Rh) D-negative pregnant women by using real-time polymerase chain reaction (PCR). Fetal genotyping was performed on 30 RhD-negative women between 9 and 39 weeks of gestation who were referred to us for invasive testing [amniocentesis/chorionic villi sampling (CVS)]. The fetal RHD genotype was determined based on real-time PCR method. Exons 7 and 10 of the RHD and SRY genes were targeted. Among the pregnant women, 12 were carrying male and 17 were carrying female fetuses. Out of 29 pregnant women, 21 had RhD-positive and nine had RhD-negative fetuses. One sample) case 12, whose blood group was found to be AB Rh [+] (was excluded due to controversial results from repeated serological analyses. All prenatal results were in concordance with postnatal RhD status and fetal sex without false-positive or -negative results. Performing real-time PCR on cffDNA showed accurate, efficient and reliable results, allowing rapid and high throughput non invasive determination of fetal sex and RhD status in clinical samples.Öğe DOCK8 deficiency; two patients with large deletions detected by Next-generation sequencing(Nature Publishing Group, 2019) Kok, G.; Aykut, A.; Durmaz, A.; Pariltay, E.; Gulez, N.; Genel, F.; CoGulu, M. O.[No abstract available]Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.Öğe The effect of genetic polymorphism on the dose and tlerability to beta-blocker therapy in turkish heart failure population(Wiley-Blackwell, 2015) Zoghi, M. Mehdi; Yilmaz, M. B.; Cavusoglu, Y.; Aykut, A.; Onay, H.; Ergene, O.Öğe First Turkish Patient with Feingold Syndrome Type 2 with severe motor mental retardation, epilepsy(Nature Publishing Group, 2018) Hazan, F.; Ozyilmaz, B.; Subasioglu, A.; Kirbiyik, O.; Aykut, A.[No Abstract Available]Öğe The G(-248A) polymorphism in the promoter region of the Bax gene in paediatric acute lymphoblastic leukaemia(Wiley-Liss, 2007) Vergin, Canan; Erbay, A.; Kazanci, E.; Onay, H.; Aykut, A.; Ozkynay, F.; Genel, E.; Yilmaz, T. B.Öğe Genetically defined mutations in primary immunodeficiencies by new generation sequencing targeted gene method: results of 200 patients from one center in Western Turkey(Wiley, 2019) Aksu, G.; Aykut, A.; Durmaz, A.; Pariltay, E.; Tokmeci, N.; Dogantan, S.; Kutukculer, N.[No abstract available]Öğe GENOME-WIDE COPY NUMBER VARIATION ANALYSIS IN IDIOPATHIC INTELLECTUAL DISABILITY/MULTIPLE CONGENITAL ANOMALIES(Medecine Et Hygiene, 2014) Pariltay, E.; Durmaz, A.; Durmaz, B.; Aykut, A.; Onay, H.; Ak, H.; Aydin, H. H.; Özkınay, Ferda; Cogulu, O.Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies: New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10 % of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb-6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.Öğe GENRE WIDE ANALYSIS IN A DISCORDANT MONOZYGOTIC TWIN WITH CAUDAL APPENDAGE AND MULTIPLE CONGENITAL ANOMALIES(Medecine Et Hygiene, 2013) Cogulu, O.; Pariltay, E.; Koroglu, O. A.; Aykut, A.; Ozyurek, R.; Levent, E.; Kultursay, N.; Özkınay, FerdaGenome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies: Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR (R) Identifier (R) PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.Öğe GENRE WIDE ANALYSIS IN A DISCORDANT MONOZYGOTIC TWIN WITH CAUDAL APPENDAGE AND MULTIPLE CONGENITAL ANOMALIES(Medecine Et Hygiene, 2013) Cogulu, O.; Pariltay, E.; Koroglu, O. A.; Aykut, A.; Ozyurek, R.; Levent, E.; Kultursay, N.; Özkınay, FerdaGenome wide analysis in a discordant monozygotic twin with caudal appendage and multiple congenital anomalies: Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR (R) Identifier (R) PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.
