Phenotypic characterization of a family with an in-frame deletion in the DMD gene and variable penetrance.

Phenotypic characterization of a family with an in-frame deletion in the DMD gene and variable penetrance. Curr Gene Ther. 2018 Jul 09;: Authors: Perez-Sanchez I, Sabater-Molina M, Rocamora MEN, Glover G, Escudero F, de Mingo Casado P, Gimeno-Blanes JR Abstract Duchenne muscular dystrophy is a disorder with variable expression caused by frame-disrupting mutations in the dystrophin gene. It is characterized by progressive muscle weakness and dilated cardiomyopathy. In-frame dystrophin mutations cause a clinically moderate disorder named Becker muscular dystrophy. Our aim was to study the clinical and genetic characteristics of a family with inherited cardiomyopathy and Becker muscular dystrophy. The index case was diagnosed with psychomotor retardation at 5 years of age. Asymmetric left ventricular hypertrophy and a long QT interval were evidenced at the age of 12. Mild muscular weakness subsequently developed. Three genetic variants were identified in the index case: p.Arg891Alafs*160 in the MYBPC3 gene, p.Thr263Met in the KCNJ5 gene, and p.Ser2437_Ile2554delinsPhe in the DMD gene. The latter was expected to generate an in-frame deletion of exons 51 and 52 of the dystrophin gene. A family study revealed that the father and 3 uncles were carriers of the MYBPC3 mutation. The mother and a maternal grandfather were carriers of the other 2 variants. The 80-year-old grandfather, who had the dystrophin mutation, showed no sign of cardiomyop...
Source: Current Gene Therapy - Category: Genetics & Stem Cells Authors: Tags: Curr Gene Ther Source Type: research