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Germinal mosaicism in facioscapulohumeral muscular dystrophy (FSHD)
Author(s) -
Upadhyaya Meena,
Maynard Julie,
Osborn Mike,
Jardine Phil,
Harper P. S.,
Lunt P.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880181310
Subject(s) - facioscapulohumeral muscular dystrophy , proband , genetics , biology , germline mosaicism , ecori , mutation , muscular dystrophy , dna , gene , restriction enzyme
Facioscapulohumeral dystrophy (FSHD) is an autosomal‐dominant neuromuscular disorder with a prevalence of 1 in 20,000. The DNA marker p13E‐11 (D4F104S1) detects a de novo DNA rearrangement in the majority of sporadic and FSHD cases. These rearrangement consist of deletions of multiple copies of tandem repeat (D4Z4). We have studied 34 new mutation FSHD families of which 26 showed a de novo fragment with p13E‐11. In three of the remaining eight families without a de novo fragment, germinal mosaicism was noted. In each case, the proband had inherited a small Eco RI fragment from the clinically unaffected mother; however, the hybridization signal intensity of this fragment in the mother's DNA was significantly reduced in all three families. This is the first study to describe such mosaicism in FSHD families using DNA analysis and therefore has a considerable significance for genetic counseling and prenatal diagnosis. © 1995 John Wiley & Sons, Inc.