A genetic study of the Fukuyama type congenital muscular dystrophy

Fukuyama, Yukio; Ohsawa, Makiko

doi:10.1016/s0387-7604(84)80113-8

Cited by 67 publications

(26 citation statements)

References 29 publications

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“…The prevalence of FCMD in Japan is 6.9-11.9 per 100,000 births, and heterozygous carriers are estimated to be one (1.9-1.0%) in 52-97 persons [Fukuyama et al, 1981;Fukuyama and Ohsawa, 1984]. Patients with FCMD show early onset muscle weakness and hypotonia, following motor developmental delay.…”

Section: Introductionmentioning

confidence: 99%

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy

Kato

Kawamura

Sugawara

et al. 2004

American J of Med Genetics Pt A

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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.

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Section: Introductionmentioning

confidence: 99%

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy

Kato

Kawamura

Sugawara

et al. 2004

American J of Med Genetics Pt A

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“…As there was apparently high consanguinity at that time, FCMD carriers with a single FCMD mutation have spread throughout Japan. At present, the carrier frequency is assumed to be about 1% in the Japanese population [Fukuyama and Ohsawa, 1984;Osawa, 1978]. Thus, the detection of the A-F haplotype is valuable in diagnosing FCMD patients.…”

Section: Discussionmentioning

confidence: 99%

Haplotype-Phenotype correlation in Fukuyama congenital muscular dystrophy

et al. 2000

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In typical Fukuyama congenital muscular dystrophy (FCMD), peak motor function is usually only unassisted sitting or sliding on the buttocks, though a few patients are able to walk at some point. However, a few patients have a severe phenotype and never acquire head control. In addition, it is clinically difficult to differentiate this severe FCMD from Walker-Warburg syndrome (WWS) or from muscle-eye-brain disease (MEBD). In order to establish a genotype-phenotype correlation, we performed haplotype analysis using microsatellite markers closest to the FCMD gene (FCMD) in 56 Japanese FCMD families, including 35 families whose children were diagnosed as FCMD with the typical phenotype, 12 families with a mild phenotype, and 9 families with a severe phenotype. Of the 12 propositi with the mild phenotype, 8 could walk and the other 4 could stand with support; 10 cases were homozygous for the ancestral founder (A-F) haplotype whereas the other 2 were heterozygous for the haplotype. In the 9 severe cases, who had never acquired head control or the ability to sit without support, 3 had progressive hydrocephalus, 2 required a shunt operation, and 7 had ophthalmological abnormalities. Haplotype analysis showed that 8 of the 9 cases of the severe phenotype are heterozygous for the A-F haplotype, and the other one homozygous for the haplotype. We confirmed that at least one chromosome in each of the 56 FCMD patients has the A-F haplotype. The rate of heterozygosity for the A-F haplotypes was significantly higher in severe cases than in typical or mild cases (P < 0.005). Severe FCMD patients appeared to be compound heterozygotes for the founder mutation and another mutation. Thus, the present study yielded molecular genetic evidence of a broad clinical spectrum in FCMD.

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“…A genetic factor may be important, 9 but some authors have suggested an infectious etiology. 10 ' 11 FCMD has even been reported in Japanese infants conceived and born outside Japan.…”

Section: Discussionmentioning

confidence: 99%

Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

Topaloǧlu

Renda²,

Göğüş³

et al. 1990

Can. j. neurol. sci.

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Congenital muscular dystrophy (CMD) is a heterogeneous group of disorders which is associated with more or less degrees of cerebral involvement. There are four separate entities within CMD nosology. Among these Fukuyama's CMD (FCMD) is highly prevalent in Japan, whereas the classic form with normal or subnormal intelligence, also known as the occidental type, covers the vast majority of cases in the West. We report a case of FCMD seen in a Turkish child. RESUME: Dystrophic musculaire congenitale de type Fukuyama chez un enfant Turque La dystrophic musculaire congenitale (DMC) est un groupe heterogene de maladies qui sont associees a differents degr6s d'atteinte c6r£brale. La DMC en tant qu'entite nosologique comprend quatre entites separees. Parmi celles-ci, la DMC de Fukuyama (DMCF) a une prevalence elevee au Japon, alors que la forme classique avec une intelligence normale ou subnormale, aussi connue comme etant la forme occidentale, couvre la grande majorite des cas identifies dans 1'hemisphere ouest. Nous rapportons un cas de DMCF observee chez un enfant turque.

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A genetic study of the Fukuyama type congenital muscular dystrophy

Cited by 67 publications

References 29 publications

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy

A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy

Haplotype-Phenotype correlation in Fukuyama congenital muscular dystrophy

Fukuyama Type Congenital Muscular Dystrophy in a Turkish Child

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