A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing.
Ann Hum Genet
; 84(4): 339-344, 2020 07.
Article
em En
| MEDLINE
| ID: mdl-31853946
ABSTRACT
Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for â¼70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of rs66612022 (COL1A2p.Gly328Ser) related to glycine substitution was found in the seven patients. Moreover, we identified a novel missense mutation (HMMRp.Glu2Gln). Interestingly, the individuals of this family with both the mutations were suffering from OI, while the others carried one or none of them are normal. The mutations of COL1A2 and HMMR and their combined effect on OI would further expand the genetic spectrum of OI.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osteogênese Imperfeita
/
Proteínas da Matriz Extracelular
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Receptores de Hialuronatos
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Colágeno Tipo I
Tipo de estudo:
Etiology_studies
Limite:
Female
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Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Ann Hum Genet
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
China