title: Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association.
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.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM, Unité 393, Hôpital des Enfants Malades, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Bürglen
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: L
authors.initials: L
authors.lastname: Viollet
authors.forename: S
authors.initials: S
authors.lastname: Lefebvre
authors.forename: P
authors.initials: P
authors.lastname: Burlet
authors.forename: O
authors.initials: O
authors.lastname: Clermont
authors.forename: V
authors.initials: V
authors.lastname: Raclin
authors.forename: P
authors.initials: P
authors.lastname: Landrieu
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: J
authors.initials: J
authors.lastname: Melki
mesh_terms: D001176:Arthrogryposis / Q000150:complications / Q000209:etiology / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D017362:Cyclic AMP Response Element-Binding Protein; D018900:Dinucleotide Repeats; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications / Q000235:genetics*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins