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A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.

Abstract：

:Osteogenesis imperfecta (OI) is a heterogenous group of genetic disorders of bone fragility. OI type V is an autosomal-dominant disease characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation; the causative mutation involved in this disease has not been discovered yet. Using linkage analysis in a four-generation family and whole-exome sequencing, we identified a heterozygous mutation of c.-14C>T in the 5'-untranslated region of a gene encoding interferon-induced transmembrane protein 5 (IFITM5). It completely cosegregated with the disease in three families and occurred de novo in five simplex individuals. Transfection of wild-type and mutant IFITM5 constructs revealed that the mutation added five amino acids (Met-Ala-Leu-Glu-Pro) to the N terminus of IFITM5. Given that IFITM5 expression and protein localization is restricted to the skeletal tissue and IFITM5 involvement in bone formation, we conclude that this recurrent mutation would have a specific effect on IFITM5 function and thus cause OI type V.

journal_name

Am J Hum Genet

journal_title

American journal of human genetics

authors

Cho TJ,Lee KE,Lee SK,Song SJ,Kim KJ,Jeon D,Lee G,Kim HN,Lee HR,Eom HH,Lee ZH,Kim OH,Park WY,Park SS,Ikegawa S,Yoo WJ,Choi IH,Kim JW

doi

10.1016/j.ajhg.2012.06.005

subject

Has Abstract

pub_date

2012-08-10 00:00:00

pages

343-8

issue

2

eissn

0002-9297

issn

1537-6605

pii

S0002-9297(12)00314-X

journal_volume

91

pub_type

杂志文章

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