Guangdong Eye Institute, Department of Ophthalmology, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou 510080, China.
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060, China.
Genes (Basel). 2022 Oct 31;13(11):1987. doi: 10.3390/genes13111987.
Congenital cataracts (CCs) have significant genotypic and phenotypic heterogeneity. The major intrinsic protein () gene, one of the causative genes of CCs, plays a vital role in maintaining the homeostasis and transparency of the lens. In this study, we identified a unique phenotype of anterior umbilication of the lens in a four-generation pedigree with CCs. All patients in the observed family had nystagmus, nuclear cataracts, and elongated axial lengths compared with their healthy counterparts except for patient I:2, whose axial length was unavailable, and patientII:4, who had total cataracts. We confirmed, using Sanger sequencing based on whole-exon sequencing (WES) data, that all patients carried a heterozygous variant NM_012064.4:c.97C > T (NP_036196.1:p.R33C) in their gene. To our knowledge, 29 variants of the human gene and the relative phenotypes associated with CCs have been identified. Nevertheless, this is the first report on the anterior umbilication of the lens with nuclear or total opacity caused by the c.97C > T (p.R33C) variant in the gene. These results also provide evidence that the elongated axial length might be associated with this variant. This study further confirms the phenotypic heterogeneity of CCs.
先天性白内障 (CCs) 具有显著的基因型和表型异质性。主要内在蛋白 () 基因是 CCs 的致病基因之一，在维持晶状体的内稳态和透明度方面起着至关重要的作用。在这项研究中，我们在一个四代 CCs 家系中发现了晶状体前脐状的独特表型。观察到的家族中所有患者均有眼球震颤、核性白内障和轴向长度延长，与健康对照者相比，除了患者 I:2，其轴向长度不可用，和患者 II:4，他患有完全白内障。我们使用基于全外显子测序 (WES) 数据的 Sanger 测序证实，所有患者均携带杂合变异 NM_012064.4:c.97C > T (NP_036196.1:p.R33C)在他们的 基因中。据我们所知，已经发现了 29 种人类 基因的变异体以及与 CCs 相关的相对表型。然而，这是首次报道由 基因中的 c.97C > T (p.R33C) 变异引起的核性或完全混浊的晶状体前脐状。这些结果还提供了证据表明，长轴长度可能与此变异有关。本研究进一步证实了 CCs 的表型异质性。
