Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing.

Human mutation - 1 Jan 2026

Zhuang Jianlong, Huang Nan, Chen Yu E, Lou Haijuan, Wang Junyu, Fu Wanyu, Chen Chunnuan

Abstract excerpt

Background: Genetic variants are the leading cause of congenital cataract (CC). To date, numerous genes have been implicated in the development of CC. The objective of the present study was to report two previously unrecognized gene variants associated with CC in two unrelated Chinese families, identified through whole exome sequencing (WES). Methods: Two unrelated Chinese families affected by CC were recruited....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to East Asian People

Share to Exome Sequencing

Share to gamma-Crystallins

Share to Genetic Association Studies

Share to Pedigree

Share to Phosphoric Monoester Hydrolases

Source

Open in PubMed Open full text

Identifiers

PMID: 42111499
DOI: 10.1155/humu/3884362
PMCID: PMC13154382

Genes

OCRL
CRYGD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of Two Novel Variants in CRYGD and OCRL Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing.PMID 42111499Read ↗

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.Semantic proximity Read ↗

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.Semantic proximity Read ↗

Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Semantic proximity Read ↗

Next generation sequencing‐based molecular diagnosis in familial congenital cataract expands the mutational spectrum in known congenital cataract genesSemantic proximity Read ↗

Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract.Semantic proximity Read ↗

Identification of mutations associated with congenital cataracts in nineteen Chinese familiesSemantic proximity Read ↗

Identification of Novel Gene Variants in Turkish Families with Non-Syndromic Congenital Cataracts Using Whole-Exome SequencingSemantic proximity Read ↗

Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.Semantic proximity Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.Semantic proximity Read ↗

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencingSemantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.Semantic proximity Read ↗

Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.