Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.

doi:10.1186/s12881-019-0937-1

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Article

Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia.

BMC medical genetics - 19 Dec 2019

Kong Lingchi, Shi Li, Wang Wenbo, Zuo Rongtai, Wang Mengwei, Kang Qinglin

Abstract excerpt

BACKGROUND: Schmid-type metaphyseal chondrodysplasia (MCDS) is an autosomal dominant disorder caused by COL10A1 mutations, which is characterized by short stature, waddling gait, coxa vara and bowing of the long bones. However, descriptions of the expressivity of MCDS are rare. METHODS: Two probands and available family members affected with MCDS were subjected to clinical and radiological examination. Genomic...

Topics

Adult
Aged
Aged, 80 and over
China
Collagen Type X
Female
Heterozygote
Humans
Infant
Male
Middle Aged
Mutation
Osteochondrodysplasias
Pedigree

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Identifiers

PMID: 31856751
DOI: 10.1186/s12881-019-0937-1
PMCID: PMC6923838

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