Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenita.

ABSTRACT:

Background

Spondyloepiphyseal dysplasia congenita (SEDC) is an extremely rare inherited chondrodysplasia characterized by abnormal epiphyses, short stature, and flattened vertebral bodies. We investigate the phenotypes and the disease-associated variants of SEDC in two unrelated Chinese families.

Methods

We identified disease-associated variants in two nonconsanguineous families with SEDC using targeted next-generation sequencing and confirmed the variants using Sanger sequencing. We investigated the phenotypes of the patients, including clinical manifestations, bone turnover biomarkers, bone mineral density and skeletal radiographic features.

Results

Two probands were diagnosed as SEDC according to the phenotypes of disproportionately short-trunk stature, kyphosis, l

SUBMITTER: Zheng WB 

PROVIDER: S-EPMC7057085 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature