ArticlePloS one2014
Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
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Who cites it
41 citing papers in PubMed, 62 citations in OpenAlex.
- The Nance-Horan syndrome protein NHS regulates cell migration persistence by organizing WAVE and N-WASP nucleation-promoting factor complexes.The Journal of biological chemistry · 2026Article
- Candidate Genes for Non-Syndromic Pediatric Cataracts.Clinical ophthalmology (Auckland, N.Z.) · 2026Review
- Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.BMC medical genomics · 2025Article
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.Biomedicines · 2025Article
- Identification of a novel single nucleotide deletion in the NHS causing Nance-Horan syndrome.BMC ophthalmology · 2025Article
- Review
- NovelInternational journal of ophthalmology · 2024Article
- Case report: Whole exome sequencing identified a novel mutation (p.Y301H) ofFrontiers in medicine · 2024Article
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.International journal of molecular sciences · 2023Article
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Molecular medicine reports · 2023Article
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Genes · 2022Article
- A novel Nance-Horan syndrome mutation identified by next-generation sequencing in a Chinese family.International journal of ophthalmology · 2022Article
- Article
- The relationship between major intrinsic protein genes and cataract.International ophthalmology · 2021Review
- Functional analysis of deleteriousMolecular vision · 2021Article
- Functional analysis of deleteriousMolecular vision · 2021Article
- Application of WES Towards Molecular Investigation of Congenital Cataracts: Identification of Novel Alleles and Genes in a Hospital-Based Cohort of South India.International journal of molecular sciences · 2020Article
- Identification of Differentially Methylated CpG Sites in Fibroblasts from Keloid Scars.Biomedicines · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeThe aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts.
methodsGenomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing.
resultsEleven candidate variants in seven of the 34 genes were detected by exome sequencing and then confirmed by Sanger sequencing, including two variants predicted to be benign and the other pathogenic mutations. The nine mutations were present in 9 of the 18 (50%) families with congenital cataracts. Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded except for cataract, in which a pseudo-dominant inheritance form was suggested, as female carriers also had different forms of cataracts.
conclusionThis study expands the mutation spectrum and frequency of genes responsible for congenital cataract. Mutation in NHS is a common cause of nonsyndromic congenital cataract with pseudo-autosomal dominant inheritance. Combined with our previous studies, a genetic basis could be identified in 67.6% of families with congenital cataracts in our case series, in which mutations in genes encoding crystallins, genes encoding connexins, and NHS are responsible for 29.4%, 14.7%, and 11.8% of families, respectively. Our results suggest that mutations in NHS are the common cause of congenital cataract, both syndromic and nonsyndromic.
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