A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta. Issue 4 (20th March 2013)

• Record Type: Journal Article
• Authors: Volodarsky, Michael; Markus, Barak; Cohen, Idan; Staretz‐Chacham, Orna; Flusser, Hagit; Landau, Daniella; Shelef, Ilan; Langer, Yshaia; Birk, Ohad S.
• Is Part Of: Human mutation. Volume 34:Issue 4(2013:Apr.)
• Page Start: 582
• Page End: 586
• Publication Date: 2013-03-20
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22274
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22274-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We demonstrate through homozygosity mapping and whole exome seuquencing that autosomal recessive osteogensis imperfecta (OI) type IV is associated with a homozygous deletion mutation of exon 4 of TMEM38B. TMEM38B encodes TRIC‐B, a ubiquitous component of TRIC, a monovalent cation‐specific channel involved in Ca2+ release from intracellular stores that has been shown to act in cell differentiation. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg1v7r2n77" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>