A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
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.
Becerra-Solano
L E
LE
División de Genética, Centro de Investigación Biomédica de Occidente, CMNO-IMSS, Guadalajara, Mexico.
Butler
J
J
Castañeda-Cisneros
G
G
McCloskey
D E
DE
Wang
X
X
Pegg
A E
AE
Schwartz
C E
CE
Sánchez-Corona
J
J
García-Ortiz
J E
JE
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
D013097:Spermine Synthase