Ontology highlight
ABSTRACT:
SUBMITTER: Amor IM
PROVIDER: S-EPMC3957185 | biostudies-literature | 2011 Nov
REPOSITORIES: biostudies-literature
Amor I M Ben IM Rauch F F Gruenwald K K Weis M M Eyre D R DR Roughley P P Glorieux F H FH Morello R R
American journal of medical genetics. Part A 20110930 11
Mutations of proteins involved in posttranslational modification of collagen type I can cause osteogenesis imperfecta (OI) inherited in a recessive pattern. The cartilage-associated protein (CRTAP) is part of a heterotrimeric complex (together with prolyl-3-hydroxylase-1 [P3H1] and cyclophilin B) that 3-hydroxylates the alpha 1 chain of collagen type I at proline residue 986 and plays a collagen chaperon role. CRTAP mutations usually cause severe OI. We report on a patient with OI and a homozygo ...[more]