title: Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.
abstract: We report twenty-two novel mutations in the gene encoding the transcription factor LMX1B, previously shown to be mutated in persons with Nail Patella Syndrome (NPS). The mutations comprised eight missense, one splice-site, three insertion/deletion and ten nonsense or frameshift mutations. A sub-set of five recurrent mutations within the homeodomain represents over one-quarter of the described NPS mutations. The type and distribution of the mutations is consistent with the hypothesis that NPS is the result of haploinsufficiency for LMX1B.
authors.affiliation: Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA. imcintos@jhmi.edu
authors.forename: J D
authors.initials: JD
authors.lastname: Hamlington
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
mesh_terms: D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D016368:Frameshift Mutation / Q000235:genetics; D018398:Homeodomain Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D060850:LIM-Homeodomain Proteins; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009261:Nail-Patella Syndrome / Q000235:genetics*; D017434:Protein Structure, Tertiary; D014157:Transcription Factors
chemical_list: D018389:Codon, Nonsense; D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors