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Article

A Distinctive Skeletal Phenotype in an Adult With IFITM5 -Associated Osteogenesis Imperfecta due to p.Ser40Leu Variant.

American journal of medical genetics. Part A - 1 Nov 2025

Amalnath Deepak, Rajagopal Shreya, Aparna Koyyagura

Abstract excerpt

More than 100 patients have been reported with osteogenesis imperfecta due to disease-causing variants in IFITM5. Distinct features of this condition include ossification of the interosseous membrane and hypertrophic calluses. Most of them have a recurrent heterozygous variant in the 5'-UTR (c.-14C>T) of IFITM5. A few patients have a heterozygous missense variant in the first exon of IFITM5 [(c.119C>T)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40621697
DOI: 10.1002/ajmg.a.64172

Genes

IFITM5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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