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Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.

Authors: Murakami, Terumi  Hayashi, Yukiko K  Noguchi, Satoru  Ogawa, Megumu  Nonaka, Ikuya  Tanabe, Yuzo  Ogino, Mieko  Takada, Fumio  Eriguchi, Makoto  Kotooka, Norihiko  Campbell, Kevin P  Osawa, Makiko  Nishino, Ichizo 
Citation: Murakami T, etal., Ann Neurol. 2006 Nov;60(5):597-602.
Pubmed: (View Article at PubMed) PMID:17036286
DOI: Full-text: DOI:10.1002/ana.20973


OBJECTIVE: The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation. In contrast with the severe dystrophic involvement of skeletal muscle, cardiac insufficiency is quite rare. Fukuyama-type congenital muscular dystrophy is one of the disorders associated with glycosylation defects of alpha-dystroglycan, an indispensable molecule for intra-extra cell membrane linkage.
METHODS: Protein and functional analyses of alpha-dystroglycan and mutation screening of FKTN and other associated genes were performed.
RESULTS: Surprisingly, we identified six patients in four families showing dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence, associated with a compound heterozygous FKTN mutation. One patient died by rapid progressive dilated cardiomyopathy at 12 years old, and the other patient received cardiac implantation at 18 years old. Skeletal muscles from the patients showed minimal dystrophic features but have altered glycosylation of alpha-dystroglycan and reduced laminin binding ability. One cardiac muscle that underwent biopsy showed altered glycosylation of alpha-dystroglycan similar to that observed in a Fukuyama-type congenital muscular dystrophy patient.
INTERPRETATION: FKTN mutations could cause much wider spectrum of clinical features than previously perceived, including familial dilated cardiomyopathy and mildest limb girdle muscular dystrophy.

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CRRD Object Information
CRRD ID: 11576324
Created: 2017-01-09
Species: All species
Last Modified: 2017-01-09
Status: ACTIVE



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