Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract
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منابع مشابه
Correction: Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies
This study aimed to identify the underlying molecular genetic cause in four Spanish families clinically diagnosed of Retinitis Pigmentosa (RP), comprising one autosomal dominant RP (adRP), two autosomal recessive RP (arRP) and one with two possible modes of inheritance: arRP or X-Linked RP (XLRP). We performed whole exome sequencing (WES) using NimbleGen SeqCap EZ Exome V3 sample preparation ki...
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Acrodysostosis is a dominantly-inherited, multisystem disorder characterized by skeletal, endocrine, and neurological abnormalities. To identify the molecular basis of acrodysostosis, we performed exome sequencing on five genetically independent cases. Three different missense mutations in PDE4D, which encodes cyclic AMP (cAMP)-specific phosphodiesterase 4D, were found to be heterozygous in thr...
متن کاملHomozygosity Mapping and Targeted Sanger Sequencing Identifies Three Novel CRB1 (Cumbs homologue 1) Mutations in Iranian Retinal Degeneration Families
Background: Inherited retinal diseases (IRDs) are a group of genetic disorders with high degrees of clinical, genetic and allelic heterogeneity. IRDs generally show progressive retinal cell death resulting in gradual vision loss. IRDs constitute a broad spectrum of disorders including retinitis pigmentosa and Leber congenital amaurosis. In this study, we performed genotyping studies to identify...
متن کاملExome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
OBJECTIVE To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles. METHODS Exome sequencing was used to identify candidate mutations in the studied pedigree. Genome-wide linkage was then used to narrow the list of candidates to a single disease-associated mutation. Additional pedigrees with dominant or sporadic myopathy were ...
متن کاملExome sequencing identifies two novel PSEN1 mutations (p.L166V and p.S230R) in British early onset Alzheimer’s disease
*The Alzheimer’s Research UK (ARUK) Consortium: Peter Passmore, David Craig, Janet Johnston, Bernadette McGuinness, Stephen Todd, Queen’s University Belfast, UK; Reinhard Heun, Royal Derby Hospital, UK; Heike Kölsch, University of Bonn, Germany; Patrick G. Kehoe, University of Bristol, UK; Nigel M. Hooper, University of Leeds, UK; Emma R.L.C. Vardy, University of Newcastle, UK; David M. Mann, S...
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ژورنال
عنوان ژورنال: Human Genomics
سال: 2014
ISSN: 1479-7364
DOI: 10.1186/s40246-014-0019-6