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Mutation analysis of LMX1B gene in nail-patella syndrome patients. |
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| Authors: | I McIntosh S D Dreyer M V Clough J A Dunston W Eyaid C M Roig T Montgomery S Ala-Mello I Kaitila A Winterpacht B Zabel M Frydman W G Cole C A Francomano B Lee |
| Affiliation: | 1Institute of Genetic Medicine Johns Hopkins University, Baltimore;2Pre-Doctoral Training Program in Human Genetics, Johns Hopkins University, Baltimore;3Department of Molecular and Human Genetics, Baylor College of Medicine, Houston;4Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda;5Department of Human Genetics, University of Newcastle, Newcastle-upon-Tyne, England;6Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki;7Department of Pediatrics, University of Mainz, Mainz, Germany;8Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel;9Division of Orthopedics, Hospital for Sick Children, Toronto |
| Abstract: | Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations. |
| Keywords: | Author Keywords: Nail patella LMX1B. Mutation Homeodomain Haploinsufficiency Genotype-phenotype correlation |
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