Erratum to: Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family
نویسندگان
چکیده
منابع مشابه
Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing ...
متن کاملA novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin
PURPOSE To identify the underlying genetic defect in a three-generation family with five members affected with dominant bilateral congenital cataract and microcornea. METHODS Detailed family history and clinical data were recorded. Mutation screening in the candidate genes, CRYAA, CRYBB1, MAF, GJA3, and GJA8, was performed by bidirectional sequencing of the amplified products. RESULTS Affec...
متن کاملIdentification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.
Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and...
متن کاملA novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family
PURPOSE To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. METHODS Family history and clinical data were recorded. The genomic DNA was extracted from peripheral blood leukocytes. All the members were genotyped with microsatellite markers at loci considered to be associated with cataracts. Two-point logarithm of odds (LOD) scores ...
متن کاملExome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during childhood, developing progressively impaired central vision and bilateral atrophic macular lesions in ...
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ژورنال
عنوان ژورنال: Graefe's Archive for Clinical and Experimental Ophthalmology
سال: 2016
ISSN: 0721-832X,1435-702X
DOI: 10.1007/s00417-016-3557-x