Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H

Borg, Kristian, Stucka, Rolf, Locke, Matthew, Melin, Eva, Åhlberg, Gabrielle, Klutzny, Ursula, Von Der Hagen, Maja, Huebner, Angela, Lochmüller, Hanns, Wrogemann, Klaus, Thornell, Lars-Eric, Blake, Derek J. ORCID: https://orcid.org/0000-0002-5005-4731 and Schoser, Benedikt 2009. Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H. Human Mutation 30 (10) , E831-E844. 10.1002/humu.21063

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Abstract

In 2005 the commonality of sarcotubular myopathy (STM) and limb girdle muscular dystrophy type 2H (LGMD2H) was demonstrated, as both are caused by the p D487N missense mutation in TRIM32 originally found in the Manitoba Hutterite population. Recently, three novel homozygous TRIM32 mutations have been described in LGMD patients. Here we describe a three generation Swedish family clinically presenting with limb girdle muscular weakness and histological features of a microvacuolar myopathy. The two index patients were compound heterozygotes for a frameshift mutation in TRIM32 (c.1560delC ) and a 30 kb intragenic deletion, encompassing parts of intron 1 and the entire exon 2 of TRIM32. In these patients, no full-length or truncated TRIM32 could be detected. Interestingly, heterozygous family members carrying only one mutation showed mild clinical symptoms and vacuolar changes in muscle. In our family, the phenotype encompasses additionally a mild demyelinating polyneuropathic syndrome. Thus STM and LGMD2H are the result of loss of function mutations that can be either deletions or missense mutations.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Dentistry Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	Q Science > QH Natural history > QH426 Genetics R Medicine > R Medicine (General) R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Uncontrolled Keywords:	TRIM32; LGMD2H; muscular dystrophy; sarcotubular myopathy
Publisher:	Wiley-Blackwell
ISSN:	1059-7794
Last Modified:	06 May 2023 02:42
URI:	https://orca.cardiff.ac.uk/id/eprint/15779

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