Document Detail

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy.
MedLine Citation:
PMID:  15103718     Owner:  NLM     Status:  MEDLINE    
Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities. Differential diagnosis of FCMD from Duchenne and Becker muscular dystrophies (DMD/BMD) or other types of congenital muscular dystrophy is occasionally difficult, because of their phenotypic similarity. The gene (FCMD) responsible for FCMD at 9q31 was isolated in 1998. In Japan, most FCMD-bearing chromosomes (87%) have a 3-kb retrotransposal insertion into the 3'-untranslated region (UTR) of the gene that could be derived from a single ancestral founder. Nine non-founder mutations have been identified in Japanese FCMD patients. Severe phenotype was significantly more frequent in patients who were compound heterozygotes for a point mutation and the founder mutation, than in homozygotes for the founder mutation. We developed a PCR-based diagnostic method for a rapid detection of the retrotransposal insertion mutation. Using this system, we screened 18 FCMD patients, and found 16 homozygotes and two heterozygotes for the insertion. We also evaluated the carrier frequency in the normal Japanese population. Six of 676 persons were recognized as a heterozygous carrier. Furthermore, we found three homozygotes for the FCMD founder mutation among 97 patients who had been said to have probable DMD/BMD without any DMD mutations. On the other hand, there were no FCMD homozygotes but four heterozygous carriers among 335 patients with DMD mutations. The diagnostic method we developed will provide a rapid and reliable diagnosis of FCMD, which can bring important information in genetic counseling, such as the accurate mode of inheritance, recurrence risk and a life expectancy.
Rumiko Kato; Jun Kawamura; Hirobumi Sugawara; Norio Niikawa; Naomichi Matsumoto
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  127A     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-04-22     Completed Date:  2004-11-09     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  54-7     Citation Subset:  IM    
Copyright Information:
Copyright 2004 Wiley-Liss, Inc.
Department of Pediatrics, National Higashi-Saitama Hospital, Saitama, Japan.
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MeSH Terms
Genetic Counseling / methods
Genetic Testing
Membrane Proteins
Muscular Dystrophies / congenital,  diagnosis*,  genetics
Muscular Dystrophy, Duchenne / diagnosis,  genetics
Mutagenesis, Insertional / genetics*
Polymerase Chain Reaction / methods*
Proteins / genetics*
Retroelements / genetics
Reg. No./Substance:
0/FKTN protein, human; 0/Membrane Proteins; 0/Proteins; 0/Retroelements

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