ArticleMolecular biology reports2014
Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing.
Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 24 citations in OpenAlex.
- Novel Mutations ofBioMed research international · 2021Review
- GLA missense and promoter variants co-segregating in a Chinese family with Fabry disease.Annals of translational medicine · 2020Article
- Establishment of microRNA, transcript and protein regulatory networks in Alport syndrome induced pluripotent stem cells.Molecular medicine reports · 2019Article
- Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.Journal of cellular and molecular medicine · 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 collagen type IV alpha-4 (The Indian journal of medical research · 2016Article
- Article
- Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.PloS one · 2015Article
- A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.BioMed research international · 2014Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alport syndrome (AS) is an inherited disorder and clinically characterized by glomerulonephritis and end-stage kidney disease (ESRD). The aim of this study was to identify the gene responsible for glomerulopathy in a 4-generation Chinese pedigree. Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree. A novel missense mutation c.368G>A (p.Gly123Glu) in the collagen type IV alpha-5 gene (COL4A5) was found to be the genetic cause. The p.Gly123Glu mutation occurs prior to Gly-X-Y repeats in the alpha-5 chain of type IV collagen. Neither sensorineural hearing loss nor ocular abnormalities were present in patients of this family. Other clinical features, such as age of onset, age of ESRD, disease severity and complications, varied among patients of this family. Our finding may provide new insights into the cause and diagnosis of AS, and also have implications for genetic counseling.
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