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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta
Author(s) -
GuillénNavarro Encarna,
BallestaMartínez María Juliana,
Valencia María,
Bueno Ana María,
MartinezGlez Victor,
LópezGonzález Vanesa,
Burnyte Birute,
Utkus Algirdas,
Lapunzina Pablo,
RuizPerez Victor L.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36409
Subject(s) - osteogenesis imperfecta , interosseous membrane , mutation , forearm , calcification , medicine , allele , genetics , pathology , biology , gene
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. © 2014 Wiley Periodicals, Inc.