Congenital Disorders of Glycosylation

Gene: CHST3

Green List (high evidence)

Chondroitin sulfate has a linear polymer structure that possesses repetitive, sulfated disaccharide units containing glucuronic acid (GlcA) and N-acetylgalactosamine (GalNAc). The major chondroitin sulfate found in mammalian tissues has sulfate groups at position 4 or 6 of GalNAc residues. Chondroitin 6-sulfotransferase (C6ST) catalyzes the transfer of sulfate from PAPS (3-prime-phosphoadenosine 5-prime-phosphosulfate) to position 6 of the GalNAc residues.

Well established gene-disease association, clinical features include dislocation of the knees and/or hips at birth, clubfoot, elbow joint dysplasia with subluxation and limited extension, short stature, and progressive kyphosis developing in late childhood.

Created: 18 Dec 2020, 7:33 a.m. | Last Modified: 18 Dec 2020, 7:33 a.m.

Panel Version: 0.246

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095

Publications

• 18513679