title: Mutation analysis of LMX1B gene in nail-patella syndrome patients.
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.
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. imcintos@welchlink.welch.jhu.edu
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
authors.forename: S D
authors.initials: SD
authors.lastname: Dreyer
authors.forename: M V
authors.initials: MV
authors.lastname: Clough
authors.forename: J A
authors.initials: JA
authors.lastname: Dunston
authors.forename: W
authors.initials: W
authors.lastname: Eyaid
authors.forename: C M
authors.initials: CM
authors.lastname: Roig
authors.forename: T
authors.initials: T
authors.lastname: Montgomery
authors.forename: S
authors.initials: S
authors.lastname: Ala-Mello
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
authors.forename: A
authors.initials: A
authors.lastname: Winterpacht
authors.forename: B
authors.initials: B
authors.lastname: Zabel
authors.forename: M
authors.initials: M
authors.lastname: Frydman
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
authors.forename: C A
authors.initials: CA
authors.lastname: Francomano
authors.forename: B
authors.initials: B
authors.lastname: Lee
mesh_terms: D000818:Animals; D004247:DNA / Q000378:metabolism; D004252:DNA Mutational Analysis; D005192:Family Health; D005799:Genes, Dominant; D020180:Heteroduplex Analysis; D018398:Homeodomain Proteins / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007328:Insulin / Q000235:genetics; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics*; D010641:Phenotype; D011401:Promoter Regions, Genetic / Q000235:genetics; D051381:Rats; D014157:Transcription Factors
chemical_list: D018398:Homeodomain Proteins; D007328:Insulin; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors; D004247:DNA