Ontology highlight
ABSTRACT:
SUBMITTER: Egunsola AT
PROVIDER: S-EPMC5373861 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Egunsola Adetutu T AT Bae Yangjin Y Jiang Ming-Ming MM Liu David S DS Chen-Evenson Yuqing Y Bertin Terry T Chen Shan S Lu James T JT Nevarez Lisette L Magal Nurit N Raas-Rothschild Annick A Swindell Eric C EC Cohn Daniel H DH Gibbs Richard A RA Campeau Philippe M PM Shohat Mordechai M Lee Brendan H BH
The Journal of clinical investigation 20170306 4
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative gene in SEMD is not known. Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. In zebrafish, d ...[more]