PDF(Pubmed)
Abstract：
The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.
摘要：
MAF基因编码转录因子，其中致病变体与孤立性和综合征性先天性白内障有关。我们的目的是回顾与非综合征性先天性白内障相关的C端DNA结合域中的MAF变体，并描述一个新的患者，引起疾病的从头错义变异。对C末端MAF变体及其相关的先天性白内障和眼科发现的发表报告进行了综述。我们介绍的患者和他的亲生父母通过靶向基因小组进行基因检测，然后进行基于三重的全外显子组测序。一名有双侧核性和皮质性白内障病史的4岁患者被发现患有一种新的，MAF中可能的致病性从头变异，NM_005360.5：c.922A>G（p。Lys308Glu）。未发现综合征或眼前节异常。我们报告了新的错觉变体，c.922A>G（p。Lys308Glu），在MAF的C端DNA结合域中，被分类为可能致病并与非综合征型双侧先天性白内障有关。
