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GENATLAS PHENOTYPE
last update : 05-12-2008
Symbol NPS1
Location 9q34.1
Name nail patella syndrome
Other name(s)
  • Turner-Kieser syndrome
  • onychoosteodysplasia
  • Fong disease
  • Corresponding gene LMX1B
    Main clinical features
  • nail dysplasia, joint stiffness, patella aplasia or hypoplasia, elbow dysplasia, and iliac horns
  • kidney disease, hearing loss and normal tension glaucoma in some cases
  • clinical manifestations are highly variable both in frequency and severity
  • Genetic determination autosomal dominant
    Prevalence 1/50,000
    Function/system disorder osteo-articular
    dermatology
    Type MCA/MR
    Gene product
    Name LIM homeo domain protein (LMX1B)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   haploinsufficiency disruption of DNA binding, of protein stability or of nuclear localization
    deletion   haploinsufficiency diminished transcriptional activity and DNA binding
    Remark(s) extreme variability of the NPS phenotype observed among all different LMX1B mutations challenges the identification of genetic, endogenous, and environmental modifier factors involved in the pathogenesis of NPS
  • mutation 289delG) within the coding sequence of exon 3 at codon 97, resulting in a frame shift that creates a premature stop at codon 105, causes NPS in a family with variable expressivity of the syndrome, including open angle glaucoma (Milla 2007)
  • Genotype/Phenotype correlations an interstitial 9q33.3-q34.1 deletion of 3.07 Mb in size including the genes NR5A1 and LMX1B was detected in a female with XY reversal and ovotestes , evocative of genitopatellar syndrome. No deletion was found in five other GPS patients.