[Fine mapping of Smith-Fineman-Myers syndrome and exclusion of GPC3, GPCR2 MST4 and GLUD2 as candidate genes].

Abstract

OBJECTIVE:

Smith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation syndrome. The authors had ascertained a large Chinese family with SFMS from Shandong and had mapped the disease locus to an interval of 19.8 Mb on Xq25 flanked by markers DXS8064 and DXS8050. Further investigation suggested that SFMS exhibited locus heterogeneity. In this study for facilitating the identification of the gene responsible for SFMS, the additional markers were analyzed to narrow down the candidate region, and four candidate genes (GPC3, MST4,GPCR2 and GLUD2) were chosen and screened for disease-causing mutation.

METHODS:

PCR and denaturing polyacrylamide gel electrophoresis were used to genotype 13 new polymorphic markers distributed within the candidate region. Mutation detection was accomplished by sequencing the exons and intron-exon junctions of the candidate genes.

RESULTS:

By analyzing 13 additional polymorphic markers, SFMS candidate region can be reduced to an interval of 10.18 Mb bounded by XSTR3 and XSTR4, and no disease-causing mutation was identified in the coding regions of four candidate genes.

CONCLUSION:

GPCR2 GPC3, MST4 and GLUD2 were excluded as pathogenic genes for SFMS. The refined SFMS locus will assist in the identification and characterization of other candidate genes for SFMS.

• Authors: Qi-ji Liu, Yao-qin Gong, Jiang-xia Li, Xi-yu Zhang, Gui-min Gao, Yi-shou Guo
• Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics (Zhonghua Yi Xue Yi Chuan Xue Za Zhi) Vol. 21 Issue 3 Pg. 198-202 (Jun 2004) ISSN: 1003-9406 [Print] China
• PMID: 15192816 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• GPC3 protein, human
• Glypicans
• Membrane Proteins
• Neoplasm Proteins
• Receptors, G-Protein-Coupled
• Glutamate Dehydrogenase
• STK26 protein, human
• Protein Serine-Threonine Kinases

Topics

• Abnormalities, Multiple (genetics)
• Chromosome Mapping
• Chromosomes, Human, X
• Genetic Linkage
• Glutamate Dehydrogenase (genetics)
• Glypicans
• Humans
• Intellectual Disability (genetics)
• Male
• Membrane Proteins (genetics)
• Neoplasm Proteins (genetics)
• Protein Serine-Threonine Kinases (genetics)
• Receptors, G-Protein-Coupled (genetics)
• Syndrome