LSM1 is the new candidate gene for neurodevelopmental disorder
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Masson s.r.l.
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Neurodevelopmental disorders are a heterogeneous group of diseases. Clinical presentation often overlaps with neurodevelopmental disorders, and explaining the molecular origin often requires reverse phenotyping. Next-Generation Sequencing (NGS) allows fast and cost-effective high-throughput sequencing. Given this fact, NGS is a useful tool for reverse phenotyping, especially for rare diseases. We hereby present two similarly affected siblings with neurodevelopmental delay. Duo-whole exome sequencing was performed. The homozygous LSM1 variant was found as the most likely cause for the condition. Our report contributes to the literature on the phenotype the biallelic LSM1 mutations. Moreover, we highlight the importance of reverse phenotyping and reanalysis of the genetic data. © 2022 Elsevier Masson SAS
Açıklama
Anahtar Kelimeler
Exome, LSM1, Neurodevelopmental disorders, Next-generation sequencing, abdomen, allele, attention deficit hyperactivity disorder, biochemical analysis, bone examination, brain, case report, child, clinical article, coxa valga, developmental delay, disease classification, echocardiography, echography, eye examination, face malformation, family history, fatty liver, follow up, forehead, gene frequency, genetic association, hearing impairment, hearing test, height, heterozygote, high throughput sequencing, homozygosity, hospital, human, hydramnios, hypertelorism, hypospadias, intellectual impairment, iron deficiency, joint laxity, Letter, lower limb, lsm1 gene, male, medical history, mental disease, mother, mouth, nuclear magnetic resonance imaging, oncogene, parent, phenotype, phenotypic variation, physical examination, prenatal care, rare disease, school child, scoliosis, segregation analysis, sibling, spasticity, tooth, ureter dilatation, vasodilatation, visual evoked potential, weight, whole exome sequencing, genetics, homozygote, whole exome sequencing, LSM1 protein, human, oncoprotein, RNA binding protein, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Neurodevelopmental Disorders, Phenotype, Proto-Oncogene Proteins, RNA-Binding Proteins, Whole Exome Sequencing
Kaynak
European Journal of Medical Genetics
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
65
Sayı
11
