ArticleBioMed research international2014
A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
Article in BioMed research international, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 19 citations in OpenAlex.
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- Novel Mutations ofBioMed research international · 2021Review
- Identification of four novel mutations in theBiomedical reports · 2020Article
- [Analysis of Alport syndrome induced by type IV collagen alpha 5 gene mutation in two families].Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2019Article
- Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.Journal of cellular and molecular medicine · 2018Article
- Article
- Identification of a NovelFrontiers in genetics · 2018Article
- Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.Current genomics · 2018Review
- Long-term follow-up of an Alport syndrome patient with a novel mutation ofInternational journal of clinical and experimental pathology · 2017Article
- Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.Molecular neurobiology · 2016Article
- Identification of a novel collagen type IV alpha-4 (The Indian journal of medical research · 2016Article
- Novel CLCN7 mutation identified in a Han Chinese family with autosomal dominant osteopetrosis-2.Molecular pain · 2016Article
- Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.PloS one · 2015Article
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Authors and funding
9 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alpha-4 gene (COL4A4), and the collagen type IV alpha-5 gene (COL4A5), which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36) in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy) were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD). Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.
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