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Germinal mosaicism from grand-paternal origin in a family with Duchenne muscular dystrophy

✍ Scribed by Mireille Claustres; Paule Kjellberg; Marie Desgeorges; Hélène Bellet; Jacques Demaille

Book ID
104659800
Publisher
Springer
Year
1990
Tongue
English
Weight
216 KB
Volume
86
Category
Article
ISSN
0340-6717

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✦ Synopsis

We have identified a Duchenne muscular dystrophy (DMD) pedigree with an unexpected pattern of inheritance. Using marker restriction fragment length polymorphisms detected by probes that lie within and outside the DMD gene, we could demonstrate that the maternal grandfather has transmitted two distinct types of X chromosomes to his offspring. This original observation may be explained by postulating that the DMD mutation must have occurred during mitosis in early germline proliferation, leading to a germline mosaicism within this male ancestor.

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Molecular deletion patterns in families
Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies
✍ Mireille Claustres; Sylvie Tuffery; Marie-Pierre Chevron; Marie-Pierre Jozelon; 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 679 KB

We studied 38 unrelated patients from southern France with Duchenne (DMD) or Becker (BMD) muscular dystrophy for intragenic deletions of the DMD/BMD gene. We used both multiplex amplification of selected exons and cDNA probes. Of the 26 (68%) unrelated individuals found to have deletions, 24 (92%) w