* If you want to update the article please login/register
Abstract Background The congenital cataract-microcornea syndrome is characterized by the presence of congenital cataract and microcornea with no other systemic condition or dysmorphism. Although several causative genes have been identified in patients with CCMC, the genetic etiology of CCMC has yet to be understood. CCMC's Purpose With CCMC, the aim of studying the genetic origins of autosomal dominant families. Methods All patients and prospective family members underwent extensive ophthalmologic clinical examination in the hospital by expert ophthalmologists before being referred to clinically diagnosis. In this research, four CCMC patients from a Chinese family and five unaffected family members were included in the survey. Variant p. Ala99Ser was embedded in a conservation high mobility group-box SOX2 protein domain, with a potential pathogenic effect of p. Ala99Ser on protein level. Conclusions: In this Han Chinese family with congenital cataract and microcornea, a novel missense mutation in the SOX2 gene was discovered.
Source link: https://doi.org/10.1186/s12886-022-02291-4
Abstract Background: Congenital cataract-microcornea syndrome is characterized by the presence of congenital cataract and microcornea without the presence of any other systemic anomaly or dysmorphism. Although several causative genes have been found in CCMC patients, CCMC patients with CCMC, CCMC's genetic etiology of CCMC has yet to be fully understood. CCMC's Purpose: With CCMC, the aim is to find out the genetic basis of autosomal dominant families. Methods: All patients and potential family members underwent a comprehensive ophthalmologic clinical examination in the hospital by specialist ophthalmologists and extended to clinical diagnosis. Several CCMC patients from a Chinese family, as well as five unaffected family members, were included in this study. Variant p. Ala99Ser was manufactured in a conservation high mobility group -box domain in SOX2 protein, with the potential pathogenic effect of p. Ala99Ser on protein levels. Conclusions: In this Han Chinese family with congenital cataract and microcornea, a novel missense mutation in the SOX2 gene was discovered.
Source link: https://doi.org/10.21203/rs.3.rs-1085640/v1
Crystallins' high solubility and long-term stability are crucial to the long-term stability of lens clarity and optical properties. Other than cataract, several crystallin mutations have also been attributed to conditions such as congenital microcornea-cataract syndrome. However, the underlying molecular mechanism of CMCC caused by crystallin mutations remains unclear. The extra 26 residues at the C-terminus of X253R mutation had no effect on the X1-crystallin structure and stability, but it did increase B1-crystallin hydrophobicity and reduced its solubility, according to the researchers. The X253R mutant remarkably reduced the aggregation propensity of aggregation-inhibition mutants of B1- and B1-crystallins at high temperatures, indicating that the X253R was an aggregation-inhibition mutation of -crystallin homomers and heteromers in dilute solutions. Our findings indicate that an increase in hydrophobicity and a decrease in solubility could be responsible for cataract formation caused by the X253R mutation, although the cytotoxic effects of X253R aggregates may also be responsible for cataract formation.
Source link: https://doi.org/10.1042/bcj20160247
* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions