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A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia

Lookup NU author(s): Professor Gavin Hudson, Professor Robert Taylor, Professor Patrick Chinnery

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Abstract

Only four different mutations in the adenine nucleotide translocator 1 (ANT1) gene have been found in families with progressive external ophthalmoplegia (PEO). We report a novel heterozygous C to A transversion at nucleotide 269 in the ANT1 gene in a German family with PEO, predicted to convert a highly conserved alanine at codon 90 to aspartic acid. The mutation was identified in three siblings with PEO, one of them additionally suffered from schizoaffective disorder. Microsatellite analysis showed that the mutation was dominant and inherited from the mother who did not carry the mutation in blood, indicating germ-line mosaicism. © 2005 Elsevier B.V. All rights reserved.

Publication metadata

Author(s): Deschauer M, Hudson G, Muller T, Taylor RW, Chinnery PF, Zierz S

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2005

Volume: 15

Issue: 4

Pages: 311-315

Print publication date: 01/04/2005

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier

URL: http://dx.doi.org/10.1016/j.nmd.2004.12.004

DOI: 10.1016/j.nmd.2004.12.004

PubMed id: 15792871

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