6533b861fe1ef96bd12c4413
RESEARCH PRODUCT
Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients
Mark V. CloughMoshe FrydmanClair A. FrancomanoWaf A.a. EyaidAndreas WinterpachtSandra D. DreyerSandra D. DreyerWilliam G. ColeBernhard ZabelBrendan LeeIlkka KaitilaIain McintoshJennifer A. DunstonTara MontgomerySirpa Ala-melloCarmen M. RoigCarmen M. Roigsubject
inorganic chemicalsGenotype-phenotype correlationDNA Mutational AnalysisLIM-Homeodomain ProteinsHomeodomainHaploinsufficiencyHeteroduplex AnalysisBiologymedicine.disease_causeGenetic determinismNail patellaNail-Patella SyndromeGenotypemental disordersmedicineGeneticsAnimalsHumansInsulinGenetics(clinical)Promoter Regions GeneticGeneGenetics (clinical)health care economics and organizationsNail patella syndromeGenes DominantGeneticsFamily HealthHomeodomain ProteinsMutationLMX1B.technology industry and agricultureDNArespiratory systemmedicine.diseasePhenotypeRatsPhenotypeMutationCancer researchMutation testingHaploinsufficiencyResearch ArticleTranscription Factorsdescription
SummaryNail-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.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 1998-12-01 | The American Journal of Human Genetics |