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Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan

From the Department of Neuromuscular Research, National Institute of Neuroscience (M.O., G.K., S.N., K.S., K.M., I. Nonaka, Y.K.H., I. Nishino), National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo; and Department of Pediatrics (M.O.), Toho University Ohashi Medical Center, Tokyo, Japan.

Address correspondence and reprint requests to Dr. Ichizo Nishino, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, 187-8502 Japan nishino{at}ncnp.go.jp

Objectives: To determine the frequency of primary collagen VI deficiency in congenital muscular dystrophy (CMD) in Japan and to establish the genotype-phenotype correlation.

Methods: We performed immunohistochemistry for collagen VI in muscles from 362 Japanese patients with CMD, and directly sequenced the three collagen VI genes, COL6A1, COL6A2, and COL6A3, in patients found to have collagen VI deficiency.

Results: In Japan, primary collagen VI deficiency accounts for 7.2% of congenital muscular deficiency. Among these patients, five had complete deficiency (CD) and 29 had sarcolemma-specific collagen VI deficiency (SSCD). We found two homozygous and three compound heterozygous mutations in COL6A2 and COL6A3 in all five patients with CD, and identified heterozygous missense mutations or in-frame small deletions in 21 patients with SSCD in the triple helical domain (THD) of COL6A1, COL6A2, and COL6A3. All mutations in SSCD were sporadic dominant. No genotype-phenotype correlation was seen.

Conclusion: Primary collagen VI deficiency is the second most common CMD after Fukuyama type CMD in Japan. Dominant mutations located in the N-terminal side from the cysteine residue in the THD of COL6A1, COL6A2, and COL6A3 are closely associated with SSCD.

Supplemental data at www.neurology.org

See also page 1043

Supported by the "Research on Psychiatric and Neurological Diseases and Mental Health" from Health and Labor Sciences Research Grants; the "Research on Health Sciences focusing on Drug Innovation" from the Japanese Health Sciences Foundation; the "Research Grant (16B-2, 17A-10) for Nervous and Mental Disorders" from the Ministry of Health, Labor and Welfare; the Nakatomi Foundation; and the Program for Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO).

Disclosure: The authors report no conflicts of interest.

Received November 30, 2006. Accepted in final form April 9, 2007.

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