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Article

Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.

BMC medical genetics - 4 Mar 2017

Sangsin Apiruk, Kuptanon Chulaluck, Srichomthong Chalurmpon, Pongpanich Monnat, Suphapeetiporn Kanya, Shotelersuk Vorasuk

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic activity to remove the C-propeptide from procollagen. CASE PRESENTATION: We report a Thai OI patient who had his first...

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Source

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Identifiers

PMID: 28257626
DOI: 10.1186/s12881-017-0384-9
PMCID: PMC5336636

Genes

BMP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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