Abstract
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.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Arthrogryposis / complications
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Arthrogryposis / etiology
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Arthrogryposis / genetics*
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Child
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Child, Preschool
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Cyclic AMP Response Element-Binding Protein
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Dinucleotide Repeats
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Female
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Gene Deletion*
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Humans
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Infant
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Infant, Newborn
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Male
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Nerve Tissue Proteins / genetics*
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Polymorphism, Genetic
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RNA-Binding Proteins
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SMN Complex Proteins
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Spinal Muscular Atrophies of Childhood / complications
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Spinal Muscular Atrophies of Childhood / genetics*
Substances
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Cyclic AMP Response Element-Binding Protein
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Nerve Tissue Proteins
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RNA-Binding Proteins
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SMN Complex Proteins