title: Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy.
abstract: DNA studies in 103 spinal muscular atrophy (SMA) patients from The Netherlands revealed homozygosity for a survival motor neuron (SMN) deletion in 96 (93%) of 103. Neuronal apoptosis inhibitory protein deletions were found in 38 (37%) of 103 and occurred most frequently in SMA type I. SMN deletions have not yet been described to occur in healthy subjects. In this study, however, four unaffected sibs from two SMA families showed homozygosity for SMN deletions. Homozygosity for an SMN deletion in unaffected persons seems to be very rare. Therefore, demonstration of a homozygous SMN deletion in a clinically presumed SMA patient should be considered as a confirmation of the diagnosis, whether or not SMN is in fact the causal gene for SMA.
authors.affiliation: Department of Medical Genetics, University of Groningen, The Netherlands.
authors.forename: J M
authors.initials: JM
authors.lastname: Cobben
authors.forename: G
authors.initials: G
authors.lastname: van der Steege
authors.forename: P
authors.initials: P
authors.lastname: Grootscholten
authors.forename: M
authors.initials: M
authors.lastname: de Visser
authors.forename: H
authors.initials: H
authors.lastname: Scheffer
authors.forename: C H
authors.initials: CH
authors.lastname: Buys
mesh_terms: D004247:DNA / Q000032:analysis; D017353:Gene Deletion; D006801:Humans; D009046:Motor Neurons / Q000737:chemistry*; D009134:Muscular Atrophy, Spinal / Q000235:genetics*; D009679:Nuclear Family; D010375:Pedigree
chemical_list: D004247:DNA