Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis
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چکیده
منابع مشابه
Whole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...
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Microcephaly is a genetically heterogeneous disorder and is one of the frequently notable conditions in paediatric neuropathology which exists either as a single entity or in association with other co-morbidities. More than a single gene is implicated in true microcephaly and the list is growing with the recent advancements in sequencing technologies. Using massive parallel sequencing, we ident...
متن کاملWhole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient
Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
متن کاملExome sequencing identifies a novel TRPV4 mutation in a CMT2C family.
The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters. Guida Landouré contributed to patient characterization, completed some sequencing, mutagenesis and cell death assays, and drafted the manuscript. Barrington G. Burnett designed experiments and completed mutagenesis and cell death assays. Charlotte J. Sumner directed the s...
متن کاملExome sequencing identifies a novel UNC5D mutation in a severe myopic anisometropia family
INTRODUCTION Severe myopic anisometropia has been identified to have heritability, but the pathogenesis of anisometropia still remains obscure. CASE DESCRIPTION Here, we presented a Chinese severe myopic anisometropia family with 5 members affected. Though using the exome sequencing, we identified a novel mutation in the UNC5D gene (c.1297C>T, p.R433C), which was predicted to have a damage ef...
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ژورنال
عنوان ژورنال: European Journal of Medical Genetics
سال: 2014
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2014.08.010