Duchenne Muscular Dystrophy in a Female Patient with a Karyotype of 46,X,i(X)(q10)

• Published in: The Tohoku Journal of Experimental Medicine Vol. 222; no. 2; pp. 149 - 153
• Main Authors: Ou, Zhanhui, Li, Shaoying, Li, Qing, Chen, Xiaolin, Liu, Weiqiang, Sun, Xiaofang
• Format: Journal Article
• Language: English
• Published: Japan Tohoku University Medical Press 01-10-2010
• Subjects: Adult; Child, Preschool; Chromosome Aberrations; Chromosomes, Human, X; de novo mutation; DNA Mutational Analysis - methods; Duchenne Muscular Dystrophy; Dystrophin - deficiency; Dystrophin - genetics; Female; Humans; isochromosome Xq; karyotype; Muscular Dystrophy, Duchenne - genetics; Mutation; Nucleic Acid Amplification Techniques - methods; Parents; Pedigree; Siblings; Turner syndrome; Young Adult
• ISSN: 0040-8727; 1349-3329
• DOI: 10.1620/tjem.222.149

Duchenne muscular dystrophy (DMD) is a severe recessive X-linked form of muscular dystrophy caused by mutations in the dystrophin gene and it affects males predominantly. Here we report a 4-year-old girl with DMD from a healthy family, in which her parents and sister have no DMD genotype. A PCR-based method of multiple ligation-dependent probe amplification (MLPA) analysis showed the deletion of exons 46 and 47 in the dystrophin gene, which led to loss of dystrophin function. No obvious phenotype of Turner syndrome was observed in this patient and cytogenetic analysis revealed that her karyotype is 46,X,i(X)(q10). In conclusion, we describe the first female patient with DMD who carries a de novo mutation of the dystrophin gene in one chromosome and isochromosome Xq, i(Xq), in another chromosome.