Published in Volume
98, Issue 5 (September 1,1996)
J. Clin. Invest.
98(5):
1130-1132 (1996).
doi:10.1172/JCI118895.
Copyright ©
1996, The American Society for
Clinical Investigation.
Research Article
Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
L Bürglen,
J Amiel,
L Viollet,
S Lefebvre,
P Burlet,
O Clermont,
V Raclin,
P Landrieu,
A Verloes,
A Munnich and
J Melki
Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, Hôpital des Enfants Malades, Paris, France.
Published September 1,
1996
The survival motor neuron (SMN) gene was lacking in 6/12 patients with arthrogryposis multiplex congenita (AMC) associated with spinal muscular atrophy (SMA). Neither point mutation in the SMN gene nor evidence for linkage to chromosome 5q13 were found in the other patients. Hitherto, arthrogryposis was regarded as an exclusion criterion in SMA. Our data strongly suggest that AMC of neurogenic origin is genetically heterogeneous, with a subgroup being allelic to SMA. Absence or interruption of the SMN gene in the AMC-SMA association will make the diagnosis easier and genetic counselling will now become feasible.
