Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

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...

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Bibliographic Details
Published in:The Journal of clinical investigation 1996-09, Vol.98 (5), p.1130-1132
Main Authors: Bürglen, L, Amiel, J, Viollet, L, Lefebvre, S, Burlet, P, Clermont, O, Raclin, V, Landrieu, P, Verloes, A, Munnich, A, Melki, J
Format: Article
Language:English
Subjects:
Arthrogryposis - complications
Arthrogryposis - etiology
Arthrogryposis - genetics
Child
Child, Preschool
Cyclic AMP Response Element-Binding Protein
Dinucleotide Repeats
Female
Gene Deletion
Humans
Infant
Infant, Newborn
Male
Nerve Tissue Proteins - genetics
Polymorphism, Genetic
RNA-Binding Proteins
SMN Complex Proteins
Spinal Muscular Atrophies of Childhood - complications
Spinal Muscular Atrophies of Childhood - genetics
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Summary: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.
ISSN:0021-9738
DOI:10.1172/jci118895