title: Congenital club foot with survival of motor neuron 1, telomeric (SMN1) gene deletion.
abstract: A boy with nonreducible bilateral congenital talipes equinovarus had delayed milestones with early-onset generalized hypotonia and muscular weakness. The condition remained stable until he was 8 years old. A slow worsening of motor abilities, with myopathic signs, was observed thereafter. A homozygous deletion of exons 7 and 8 of the survival of motor neuron 1, telomeric (SMN1) gene was found, without neuronal apoptosis inhibitory protein (NAIP) gene deletion, leading to the diagnosis of spinal muscular atrophy. Independent ambulation was lost when he was 13 years old. The occurrence of congenital clubfoot with early onset of neurologic signs, but with a very slowly progressive course, has not been reported in spinal muscular atrophy until now.
authors.affiliation: Service de Neuropédiatrie, Hôpital Saint-Eloi, Montpellier, France. b-echenne@chu-montpellier.fr
authors.forename: Bernard
authors.initials: B
authors.lastname: Echenne
authors.forename: François
authors.initials: F
authors.lastname: Rivier
authors.forename: Agathe
authors.initials: A
authors.lastname: Roubertie
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Carson
mesh_terms: D000293:Adolescent; D017209:Apoptosis / Q000235:genetics; D002872:Chromosome Deletion; D003025:Clubfoot / Q000175:diagnosis / Q000235:genetics*; D017362:Cyclic AMP Response Element-Binding Protein; D018450:Disease Progression; D004200:Diseases in Twins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005500:Follow-Up Studies; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D009460:Neurologic Examination; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000175:diagnosis / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein; D016615:Telomere; D014430:Twins, Monozygotic
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; C496800:NAIP protein, human; D009419:Nerve Tissue Proteins; D051616:Neuronal Apoptosis-Inhibitory Protein; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; D055533:Survival of Motor Neuron 1 Protein