Department of Otorhinolaryngology Head and Neck Surgery, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Department of Ophthalmology and Visual Sciences, School of Medicine, University of Maryland, Baltimore, MD 21201, USA.
Int J Mol Sci. 2021 Dec 27;23(1):240. doi: 10.3390/ijms23010240.
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in , which was predicted to be pathogenic by structural analysis. Dominantly inherited variants in are known to cause numerous types of cataracts in various populations. Our study represents the second case of recessive allele, and the first report in African Americans. These results validate as a bona fide gene for recessively inherited CC in humans.
先天性白内障（CC）约占全球儿童失明病例的十分之一。在这里，我们报告了一个具有隐性遗传形式 CC 的非裔美国家庭。先证者表现为视力下降和双眼白内障，右眼为核性白内障，左眼为皮质性白内障。外显子组测序显示一个新的纯合变异（c.563A > G；p.(Asn188Ser)），结构分析预测该变异具有致病性。在不同人群中， 中的显性遗传变异已知可导致多种类型的白内障。我们的研究代表了第二个隐性 等位基因的病例，也是非洲裔美国人中的首例报告。这些结果证实 是人类隐性遗传 CC 的真正基因。
