title: Familial occurrence of Duchenne dystrophy through paternal lines in four families.
abstract: In a survey of 454 families with patients affected with Duchenne muscular dystrophy (DMD) we have found 4 genealogies with 2 or more affected patients who were related through paternal lines. In 1 of these families, 2 affected cousins showed different DNA deletions suggesting 2 independent mutations; in the other 2, in which only the propositus could be studied DNA deletions were also detected in the dystrophin gene. In the last one, with 3 affected patients, no DNA deletions were detected but immunohistochemical study of muscle biopsies showed a negative dystrophin pattern typical of DMD. Although one of these families might have occurred by chance, the probability of finding the other 3 in our sample of families with DMD patients constitutes a rare event. It is suggested that other mechanisms, such as the presence of transposable elements in other sites of the genome, could be responsible in some families, for a greater predisposition for the occurrence of pathogenic deletions, duplications or mutations.
authors.affiliation: Departamento de Biologia, Universidade de São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.forename: M R
authors.initials: MR
authors.lastname: Passos-Bueno
authors.forename: D
authors.initials: D
authors.lastname: Rapaport
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
mesh_terms: D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis*; D004251:DNA Transposable Elements; D016189:Dystrophin / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009030:Mosaicism; D009136:Muscular Dystrophies / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome / Q000648:ultrastructure*
chemical_list: D004251:DNA Transposable Elements; D016189:Dystrophin; D004247:DNA