title: A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia.
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.
authors.affiliation: Department of Neurology, Martin-Luther-University Halle-Wittenberg, Halle/Saale, Germany. marcus.deschauer@medizin.uni-halle.de
authors.forename: Marcus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Gavin
authors.initials: G
authors.lastname: Hudson
authors.forename: Tobias
authors.initials: T
authors.lastname: Müller
authors.forename: Robert W
authors.initials: RW
authors.lastname: Taylor
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: Stephan
authors.initials: S
authors.lastname: Zierz
mesh_terms: D033741:Adenine Nucleotide Translocator 1 / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D000409:Alanine / Q000235:genetics; D000818:Animals; D001224:Aspartic Acid / Q000235:genetics; D015139:Blotting, Southern / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D003576:Electron Transport Complex IV / Q000378:metabolism; D005192:Family Health; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D009030:Mosaicism; D009132:Muscles / Q000378:metabolism / Q000473:pathology; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010375:Pedigree; D012333:RNA, Messenger / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods; D020539:Sequence Analysis, Protein / Q000379:methods; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D033741:Adenine Nucleotide Translocator 1; D012333:RNA, Messenger; D001224:Aspartic Acid; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV; D000409:Alanine