Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation

作者：Hedberg Carola^*; Melberg Atle; Kuhl Angelika; Jenne Dieter; Oldfors Anders

来源：European Journal of Human Genetics, 2012, 20(9): 984-985.

DOI：10.1038/ejhg.2012.39

• myofibrillar myopathy
• desmin
• DES mutation
• arrhythmogenic right ventricular cardiomyopathy 7
• exome sequencing

Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C%26gt;T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Previous studies had demonstrated linkage to chromosome 10q22.3, but no causative mutation had been found in that region. Sanger sequencing of DNA from 17 family members confirmed the heterozygous c.1255C%26gt;T desmin mutation in seven out of ten family members that had been classified as affected in the previous study. Our new results demonstrate the usefulness of next-generation sequencing, and the diagnostic difficulties with some forms of dominantly inherited muscle diseases as they can display a wide clinical and morphological variability even within a given family. European Journal of Human Genetics (2012) 20, 984-985; doi:10.1038/ejhg.2012.39; published online 7 March 2012

• 出版日期2012-9