Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
Copyright policy )Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
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.
- Johns Hopkins University United States
- Baylor College of Medicine United States
- Johannes Gutenberg University of Mainz Germany
- University of Newcastle Australia Australia
- Department of Human Genetics Switzerland
Genotype-phenotype correlation, DNA Mutational Analysis, LIM-Homeodomain Proteins, Homeodomain, Haploinsufficiency, Heteroduplex Analysis, Nail patella, Nail-Patella Syndrome, Genetics, Animals, Humans, Insulin, Genetics(clinical), Promoter Regions, Genetic, Genes, Dominant, Family Health, Homeodomain Proteins, LMX1B., DNA, Rats, Phenotype, Mutation, Transcription Factors
Genotype-phenotype correlation, DNA Mutational Analysis, LIM-Homeodomain Proteins, Homeodomain, Haploinsufficiency, Heteroduplex Analysis, Nail patella, Nail-Patella Syndrome, Genetics, Animals, Humans, Insulin, Genetics(clinical), Promoter Regions, Genetic, Genes, Dominant, Family Health, Homeodomain Proteins, LMX1B., DNA, Rats, Phenotype, Mutation, Transcription Factors
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