ArticleMolecular genetics & genomic medicine2019
COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Identification of a novel EVC variant in a Han-Chinese family with Ellis-van Creveld syndrome.Molecular genetics & genomic medicine · 2019Trial
- Novel compound heterozygous mutations in theAnnals of translational medicine · 2021Article
- Case Report: A NovelFrontiers in genetics · 2021Article
- COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I.Molecular genetics & genomic medicine · 2019Article
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Authors and funding
7 authors at 1 institution in 1 country.
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Abstract
backgroundOsteogenesis imperfecta (OI), a genetically determined connective tissue disorder, is characterized by increased bone fragility and reduced bone mass. Clinical presentation severity ranges from very mild types with nearly no fractures to intrauterine fractures and perinatal lethality. It can be accompanied by blue sclerae, dentinogenesis imperfecta (DI), hearing loss, muscle weakness, ligament laxity, and skin fragility. This study sought to identify pathogenic gene variants in a four-generation Han Chinese family with OI type I.
methodsIn order to unveil the molecular genetic factors underlying the disease phenotype, whole exome sequencing in a member, with OI type I, of a Han Chinese family from Hunan, China was performed. The variant identified by whole exome sequencing was further tested by Sanger sequencing in the family members.
resultsA heterozygous missense variant (NM_000089.3: c.3197G>T; NP_000080.2: p.Gly1066Val) in the collagen type I alpha 2 chain gene (COL1A2) was identified in four patients. It co-segregated with the disease in the family.
conclusionThe sequence variant may be a disease-causing factor resulting in abnormal type I procollagen synthesis and leading to OI type I. This finding has significant implications for genetic counseling and clinical monitoring of high-risk families and may be helpful for understanding pathogenic mechanism of OI and developing therapies.
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