Abstract
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12–19 of the dystrophin gene on Xp21.2, with a karyotype of 46, XY. Furthermore, a novel mutation in the androgen-receptor gene on Xq11.2-q12 was identified in this girl, which led to male pseudohermaphroditism. Co-occurrence of mutations of these two genes constitutes a novel mechanism underlying female DMD.
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Acknowledgments
This work was supported by grants from the Ministry of Education, Culture, Sports, Science and Technology of Japan, the Health and Labor Science Research (Research on Psychiatric and Neurological Diseases and Mental Health), the Research Grant for Nervous and Mental Disorders from the Ministry of Health, Labor, and Welfare, and the Mitsubishi Foundation.
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Katayama, Y., Tran, V.K., Hoan, N.T. et al. Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 119, 516–519 (2006). https://doi.org/10.1007/s00439-006-0159-4
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DOI: https://doi.org/10.1007/s00439-006-0159-4