The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER stress transducer OASIS are very rare and are only reported in pediatric patients. We report a large family with a novel CREB3L1 mutation, with severe adult clinical presentation.

Methods

Clinical examination was performed on the family members. Next generation sequencing was performed for the causative genes for OI. The mutation was confirmed in other family members with Sanger sequencing.

Results

A novel homozygous mutation in CREB3L1 was identified in the three affected patients. The parents and siblings who carry the mutation in

SUBMITTER: Cayami FK 

PROVIDER: S-EPMC6687637 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature