Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Human Genetics
Yoshinori KatayamaMasafumi Matsuo

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.

Citations

Oct 25, 2012·Orphanet Journal of Rare Diseases·Jonàs Juan-MateuPia Gallano
Oct 15, 2010·The Tohoku Journal of Experimental Medicine·Zhanhui OuXiaofang Sun
Sep 11, 2012·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Marcio LeyserOsvaldo J M Nascimento
Apr 28, 2009·American Journal of Medical Genetics. Part a·Katsunori FujiiYoichi Kohno
May 5, 2010·Brain Pathology·Natashia SeemannChitra Prasad
Dec 28, 2010·Neuromuscular Disorders : NMD·Natashia SeemannUNKNOWN Canadian Pediatric Neuromuscular Group
Jun 1, 2017·The Journal of Obstetrics and Gynaecology Research·Diana MassalskaMałgorzata Bednarska-Makaruk
Feb 19, 2017·Muscle & Nerve·Sumit VermaDurga Shah
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Oct 9, 2020·BioMed Research International·Shuai HanMichele A Gatheridge

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