Journal
PLOS ONE
Volume 10, Issue 6, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0127529
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Funding
- National Natural Science Foundation of China [81101339, 81001476, 81441033]
- Natural Science Foundation of Hunan Province, China [10JJ4020, 10JJ5029]
- Postgraduates Innovative Pilot Scheme of Hunan Province, China [7138000008]
- Fundamental Research Funds for the Central Universities of Central South University [2014zzts368]
- Construction Fund for Key Subjects of the Third Xiangya Hospital, Central South University, China
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Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype- phenotype relationship between mutations at glycine in the triple helix of the alpha-1 (II) chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.
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