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DMD-gene deletion/duplication mutations identified in France

(last modified December 31, 2004)

Content

• Paris  -  Gilgenkrantz et al. (1989)

• Montpellier  -  Tuffery et al. (1998)

Paris

Extent of deletions

Legend
45 deletions detected in a group of French DMD/BMD patients in Paris, as reported by Gilgenkrantz et al. (1989). Deletions were detected using Southern blotting (HindIII-digests) and some were characterised by Pulsed-Field Gel Electrophoresis (PFGE). 

Montpellier

The deletions were detected in a group of French DMD/BMD patients in Montpellier, as reported by Tuffery et al. (1998). Deletions were detected using multiplex PCR and Southern blotting. Only few deletions were described specifically, these have been included in the DMD/BMD deletion/duplication database.

The authors report that the number of deletions identified in DMD in familial (57%; 2 proximal, 6 distal) and sporadic cases (47%; 4 proximal, 13 distal) did not differ significantly. For BMD these figures were 100% (3 proximal, 3 distal) and 75% (1 proximal, 5 distal) respectively. 9 of 16 mothers of an isolated case were carrier of a deletion mutation, and 5/8 of a point mutation; the other changes were de novo, no somatic mosaicism was detected. In one case the origin of the deletion was in the mother (D3, grandpaternal origin undefined), in 3 cases from the maternal grandmother (B49, D7, D59) and in 1 case in a generation earlier then the maternal grandmother (D62). 

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