Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.
Spinal muscular atrophies are a heterogeneous group of disorders. They differ in time of onset, clinical presentation, progression, severity and mode of inheritance. In 1985 a Dutch family was described with a dominant, non-progressive spinal muscular atrophy presenting at birth with arthrogryposis (MIM 600175). Linkage analysis was performed in this family. After having excluded the loci for Werdnig-Hoffmann's disease and for dominant distal spinal muscular atrophy with upper limb predominance, we were able to localise the gene to a 10 cM interval between the markers D12S78 and D12S1646 on chromosome 12q23-q24. Recently, dominant scapuloperoneal spinal muscular atrophy has been localised to an overlapping interval. However, the clinical appearances of scapuloperoneal spinal muscular atrophy and the present disorder make allelism unlikely. In 1994, a second Dutch family with a disorder similar to the present one was described. We excluded linkage to markers of the 12q23-q24 region in this family and thereby proved genetic heterogeneity of this type of dominant, congenital and nonprogressive spinal muscular atrophy.
van der Vleuten
A J
AJ
Department of Neurology, University Hospital, Nijmegen, The Netherlands.
van Ravenswaaij-Arts
C M
CM
Frijns
C J
CJ
Smits
A P
AP
Hageman
G
G
Padberg
G W
GW
Kremer
H
H
D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007866:Leg; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000151:congenital / Q000235:genetics*; D010375:Pedigree