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

doi:10.1002/ajmg.a.20669

. 2004 May 15;127A(1):54-57.

doi: 10.1002/ajmg.a.20669.

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

Rumiko Kato¹, Jun Kawamura², Hirobumi Sugawara^{3

4

5}, Norio Niikawa^{4

5}, Naomichi Matsumoto^{4

5

6}

Affiliations

¹ Department of Pediatrics, National Higashi-Saitama Hospital, Saitama, Japan.
² Department of Neurology, National Higashi-Saitama Hospital, Saitama, Japan.
³ Department of Orthopedics, Yamagata University School of Medicine, Yamagata, Japan.
⁴ Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
⁵ CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
⁶ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 15103718
DOI: 10.1002/ajmg.a.20669

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

Rumiko Kato et al. Am J Med Genet A. 2004.

. 2004 May 15;127A(1):54-57.

doi: 10.1002/ajmg.a.20669.

Authors

Rumiko Kato¹, Jun Kawamura², Hirobumi Sugawara^{3

4

5}, Norio Niikawa^{4

5}, Naomichi Matsumoto^{4

5

6}

Affiliations

¹ Department of Pediatrics, National Higashi-Saitama Hospital, Saitama, Japan.
² Department of Neurology, National Higashi-Saitama Hospital, Saitama, Japan.
³ Department of Orthopedics, Yamagata University School of Medicine, Yamagata, Japan.
⁴ Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
⁵ CREST, Japan Science and Technology Corporation, Kawaguchi, Japan.
⁶ Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

PMID: 15103718
DOI: 10.1002/ajmg.a.20669

Abstract

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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References

REFERENCES

1. Aida N. 1998. Fukuyama congenital muscular dystrophy: A neuroradiologic review. J Magn Reson Imaging 8: 317-326.
1. Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserli H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki A-E, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. 2002. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71: 1033-1043.
1. Fukuyama Y, Ohsawa M. 1984. A genetic study of Fukuyama type congenital muscular dystrophy. Brain Dev 6: 373-390.
1. Fukuyama Y, Osawa M, Suzuki H. 1981. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic, and pathological considerations. Brain Dev 3: 1-29.
1. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. 1998. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392.

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[1] Aida N. 1998. Fukuyama congenital muscular dystrophy: A neuroradiologic review. J Magn Reson Imaging 8: 317-326.

[2] Aida N. 1998. Fukuyama congenital muscular dystrophy: A neuroradiologic review. J Magn Reson Imaging 8: 317-326.

[3] Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserli H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki A-E, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. 2002. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71: 1033-1043.

[4] Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserli H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki A-E, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. 2002. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71: 1033-1043.

[5] Fukuyama Y, Ohsawa M. 1984. A genetic study of Fukuyama type congenital muscular dystrophy. Brain Dev 6: 373-390.

[6] Fukuyama Y, Ohsawa M. 1984. A genetic study of Fukuyama type congenital muscular dystrophy. Brain Dev 6: 373-390.

[7] Fukuyama Y, Osawa M, Suzuki H. 1981. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic, and pathological considerations. Brain Dev 3: 1-29.

[8] Fukuyama Y, Osawa M, Suzuki H. 1981. Congenital progressive muscular dystrophy of the Fukuyama type-clinical, genetic, and pathological considerations. Brain Dev 3: 1-29.

[9] Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. 1998. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392.

[10] Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. 1998. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394: 388-392.

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

Affiliations

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

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