A missense mutation, p.V132G, in the X‐linked spermine synthase gene (SMS) causes Snyder–Robinson syndrome
- 10 February 2009
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 149A (3), 328-335
- https://doi.org/10.1002/ajmg.a.32641
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.Keywords
This publication has 14 references indexed in Scilit:
- Crystal Structure of Human Spermine Synthase: IMPLICATIONS OF SUBSTRATE BINDING AND CATALYTIC MECHANISMJournal of Biological Chemistry, 2008
- New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndromeJournal of Medical Genetics, 2008
- Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationNature Genetics, 2007
- The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 geneJournal of Medical Genetics, 2007
- Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) GeneAmerican Journal of Human Genetics, 2005
- X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndromeEuropean Journal of Human Genetics, 2003
- Effect of spermine synthase on the sensitivity of cells to anti-tumour agentsBiochemical Journal, 2003
- Allan‐herndon‐dudley syndrome: Clinical and linkage studies on a second familyAmerican Journal of Medical Genetics, 1992
- A new psychomotor retardation syndrome with peculiar facies and marfan‐oid habitusClinical Genetics, 1984
- Recessive Sex-Linked Mental Retardation in the Absence of Other Recognizable AbnormalitiesClinical Pediatrics, 1969