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首页> 外文期刊>Journal of genetics >Detection of c.139GA (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing
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Detection of c.139GA (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing

机译：通过外显子组测序检测具有常染色体显性小带白内障遗传且无粉状混浊的大家庭中GJA8基因中的c.139G> A（D47N）突变

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The aim of this study was to identify the gene causing bilateral autosomal dominant zonular congenital cataract (ADZCC) without pulverulent opacities in an extended Muslim family by exome sequencing and subsequent analysis. An extended family of 37 members (14 affected and 23 unaffected) who belong to different nuclear families was screened for causative gene. Proband and her unaffected son were screened for causative variant by exome sequencing followed by Sanger sequencing of the probanda??s entire nuclear family. The rest of the members were further screened for variants detected, by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and tetra-primer amplification refractorymutation system-polymerase chain reaction (T-ARMS PCR). Review of exome sequencing data of the proband and her unaffected son for 40 known genes causing congenital nonsyndromic cataracts revealed two variants, namely c.139GA (p.Asp47Asn; D47N) in the GJA8 gene and c.2036CT in the FYCO1 gene to be potentially pathogenic. Further, validation of these two variants in the entire family showed cosegregation of c.139GA variant in GJA8 with ADZCC without pulverulent opacities. Variation of c.2036CT in FYCO1 was not associated with disease in the family. The mutation c.139GA in the GJA8 gene detected in the present study was also previously reported in Caucasian and Chinese families but with different phenotypes, i.e. nuclear and nuclear pulverulent cataracts. Thus, the mutation c.139GA in GJA8 appears to exhibit marked interfamilial phenotypic variability.
机译：这项研究的目的是通过外显子组测序和随后的分析，鉴定在一个扩展的穆斯林家庭中导致双侧常染色体显性遗传性先天性白内障（ADZCC）且无粉状混浊的基因。筛选了属于不同核心家族的37个成员的大家族（14个受影响的家族和23个未受影响的家族）的致病基因。通过外显子组测序，然后对先证者的整个核心家庭进行桑格测序，对先证者和她未受影响的儿子进行了病因变异筛选。通过聚合酶链反应限制性片段长度多态性（PCR-RFLP）和四引物扩增难治性突变系统-聚合酶链反应（T-ARMS PCR），进一步筛选其余成员的变异。对先证者及其未受影响的儿子的外显子组测序数据进行回顾，发现了导致先天性非综合征性白内障的40个已知基因，发现两个变异，即GJA8基因中的c.139G> A（p.Asp47Asn; D47N）和FYCO1中的c.2036C> T该基因可能具有致病性。此外，在整个家族中对这两个变体的验证表明，GJA8中的c.139G> A变体与ADZCC共分离而没有粉状混浊。 FYCO1中c.2036C> T的变化与家庭疾病无关。在本研究中检测到的GJA8基因中的c.139G> A突变以前也曾在白人和中国家庭中报道过，但具有不同的表型，即核和核粉状性白内障。因此，GJA8中的突变c.139G> A似乎表现出明显的家族间表型变异性。

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