title: A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
abstract: Snyder-Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3-p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder-Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome.
authors.affiliation: División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
authors.forename: L E
authors.initials: LE
authors.lastname: Becerra-Solano
authors.forename: J
authors.initials: J
authors.lastname: Butler
authors.forename: G
authors.initials: G
authors.lastname: Castañeda-Cisneros
authors.forename: D E
authors.initials: DE
authors.lastname: McCloskey
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: A E
authors.initials: AE
authors.lastname: Pegg
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
authors.forename: J E
authors.initials: JE
authors.lastname: García-Ortiz
mesh_terms: D000328:Adult; D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D005091:Exons; D050172:Genes, X-Linked; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D020125:Mutation, Missense; D010024:Osteoporosis / Q000235:genetics; D010375:Pedigree; D012600:Scoliosis / Q000235:genetics; D035781:Siblings; D013097:Spermine Synthase / Q000235:genetics*; D055815:Young Adult
chemical_list: D013097:Spermine Synthase