Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta.

ABSTRACT:

Background

Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene mutations, worldwide. Here, we report a patient with a BMP1 gene mutation to explore the relationship between genotype and phenotype, and the patient was followed up for 4 years.

Methods

Detailed clinical features were collected, and BMP1 mutational analysis was performed by next-generation sequencing and Sanger sequencing.

Results

The patient had recurrent fractures, low bone mass, bone deformities and growth retardation but did not have hearing loss or dentinogenesis imperfecta. Next-generation sequencing and Sanger sequencing revealed a heterozygou

SUBMITTER: Xi L 

PROVIDER: S-EPMC8222833 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature