Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family
نویسندگان
چکیده
منابع مشابه
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing
PURPOSE Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean fam...
متن کاملPulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.
AIMS To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF. METHODS Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features. RESULTS The cataracts...
متن کاملTwo heterozygous mutations identified in one Chinese patient with bilateral macular coloboma
Congenital macular coloboma is characterized by defined punched out atrophic lesions of the macula. The present study aimed to investigate the genetic alterations of one Chinese sporadic patient with bilateral large macular coloboma. Complete ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination, fundus photograph and fundus fluorescein angio...
متن کاملCataract extraction in a case of congenital coloboma of the iris.
THIS case of cataract in a woman with bilateral congenital colobomata of the iris, and its extraction, is presented because of its rarity as a surgical event. The incidence of coloboma of the iris and retina is variously given by different workers. Clarke and his colleagues found twelve cases of typical colobomata of the iris in a series of 500 ocular abnormalities (Clarke, Bancroft, Allen, Wan...
متن کاملMutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)
PURPOSE To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract. METHODS Four patients and three healthy members from the family underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from peripheral blood leukocytes of the family members as well as from 100 healthy normal controls. Polymerase chain reaction (PCR) ampli...
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ژورنال
عنوان ژورنال: Journal of Ophthalmology
سال: 2020
ISSN: 2090-004X,2090-0058
DOI: 10.1155/2020/7054315