New mutations cause female DMD

PubMed, the Internet portal of biomedical and life sciences literature, indexed an interesting article, entitled “Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy (Hum Genet. 2006 Mar 10). Authors are Katayama Y, tran VK, Hoan NT, et al, from the Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Authors report a novel mechanism for the occurrence of DMD in females. In a 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. To access the full abstract of the article, click here.