Mutation analysis of LMX1B gene in Nail-patella syndrome patients

Iain McIntosh, Sandra D. Dreyer, Mark V. Clough, Jennifer A. Dunston, Waf A.a. Eyaid, Carmen M. Roig, Tara Montgomery, Sirpa Ala-Mello, Ilkka Kaitila, Andreas Winterpacht, Bernhard Zabel, Moshe Frydman, William G. Cole, Clair A. Francomano, Brendan Lee

Research output: Contribution to journalArticlepeer-review

118 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1651-1658
Number of pages8
JournalAmerican journal of human genetics
Issue number6
StatePublished - 1998
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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