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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta.

Authors
  • Guillén-Navarro, Encarna
  • Ballesta-Martínez, María Juliana
  • Valencia, María
  • Bueno, Ana María
  • Martinez-Glez, Victor
  • López-González, Vanesa
  • Burnyte, Birute
  • Utkus, Algirdas
  • Lapunzina, Pablo
  • Ruiz-Perez, Victor L
Type
Published Article
Journal
American Journal of Medical Genetics Part A
Publisher
Wiley (John Wiley & Sons)
Publication Date
May 01, 2014
Volume
164A
Issue
5
Pages
1136–1142
Identifiers
DOI: 10.1002/ajmg.a.36409
PMID: 24478195
Source
Medline
Keywords
License
Unknown

Abstract

The IFITM5 gene has recently been found to be mutated in patients with autosomal dominant osteogenesis imperfecta (OI) type V. This form of OI is characterized by distinctive clinical manifestations, including hyperplastic callus formation at the site of fractures, calcification of the interosseous membrane of the forearm, and dislocation of the head of the radius. Notably, in spite of the fact that a considerable number of patients with IFITM5 mutations have been identified, to date all of them have been shown to have the same heterozygous mutation (c.-14C>T). Herein, we describe one patient with a de novo c.119C>T heterozygous mutation in IFITM5, which predicts p.Ser40Leu, and another with the recurrent c.-14C>T transition that was also apparently de novo. While the patient with the p.Ser40Leu mutation had none of the typical signs of OI type V and was diagnosed with limb shortening at prenatal stages, the patient with the c.-14C>T mutation developed hyperplastic calluses and had calcification of the forearm interosseous membrane. This study challenges the lack of allelic and clinical heterogeneity in IFITM5 mutations.

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