A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents

Monica Marini, Renata Bocciardi, Stefania Gimelli, Marco Di Duca, Maria T. Divizia, Anwar Baban, Harald Gaspar, Isabella Mammi, Livia Garavelli, Roberto Cerone, Francesco Emma, Maria F. Bedeschi, Romano Tenconi, Alberto Sensi, Andrea Salmaggi, Mario Bengala, Francesca Mari, Gianluca Colussi, Krzysztof Szczaluba, Stylianos E. AntonarakisMarco Seri, Margherita Lerone, Roberto Ravazzolo

Research output: Contribution to journalArticlepeer-review


Purpose: Nail-Patella syndrome (MIM 161200) is a rare autosomal dominant disorder characterized by hypoplastic or absent patellae, dystrophic nails, dysplasia of the elbows, and iliac horn. In 40% of cases, a glomerular defect is present and, less frequently, ocular damage is observed. Inter-and intrafamilial variable expressivity of the clinical phenotype is a common finding. Mutations in the human LMX1B gene have been demonstrated to be responsible for Nail-Patella syndrome in around 80% of cases. Methods: Standard polymerase chain reaction and sequencing methods were used for mutation and single nucleotide polymorphism identification and control of cloned sequences. Array-CGH (Agilent, 244A Kit) was used for detection of deletions. Standard cloning techniques and the Snapshot method were used for analysis of mosaicism. Results: In this study, we present the Results of LMX1B screening of 20 Nail-Patella syndrome patients. The molecular defect was found in 17 patients. We report five novel mutations and a ∼2 Mb deletion in chromosome 9q encompassing the entire LMX1B gene in a patient with a complex phenotype. We present evidence of somatic mosaicism in unaffected parents in two cases, which, to our knowledge, are the first reported cases of inheritance of a mutated LMX1B allele in Nail-Patella syndrome patients from a mosaic parent. Conclusion: The study of the described case series provides some original observations in an "old" genetic disorder.

Original languageEnglish
Pages (from-to)431-439
Number of pages9
JournalGenetics in Medicine
Issue number7
Publication statusPublished - Jul 2010


  • deletion
  • LMX1B gene
  • mosaicism
  • mutation
  • Nail-Patella syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Medicine(all)


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