Two non-contiguous duplications in the DMD gene in a Spanish family.
DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant.
Fenollar-Cortés
M
M
Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain. mfenollar.hcsc@salud.madrid.org
Gallego-Merlo
J
J
Trujillo-Tiebas
M J
MJ
Lorda-Sánchez
I
I
Ayuso
C
C
D016189:Dystrophin / Q000235:genetics*; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D008957:Models, Genetic; D015336:Molecular Probe Techniques; D020388:Muscular Dystrophy, Duchenne / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction / Q000379:methods
C484258:DMD protein, human; D016189:Dystrophin