Nail patella syndrome: a review of the phenotype aided by developmental biology. Issue 3 (1st March 2003)

• Record Type: Journal Article
• Authors: Sweeney, E; Fryer, A; Mountford, R; Green, A; McIntosh, I
• Is Part Of: Journal of medical genetics. Volume 40:Issue 3(2003)
• Page Start: 153
• Page End: 162
• Publication Date: 2003-03-01
• Subjects: nail patella syndrome -- LMX1B -- glaucoma -- renal failure; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.40.3.153
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Nail patella syndrome (NPS) is an autosomal dominant condition affecting the nails, skeletal system, kidneys, and eyes. Skeletal features include absent or hypoplastic patellae, patella dislocations, elbow abnormalities, talipes, and iliac horns on x ray. Kidney involvement may lead to renal failure and there is also a risk of glaucoma. There is marked inter- and intrafamilial variability. The results of a British study involving 123 NPS patients are compared with previously published studies and it is suggested that neurological and vasomotor symptoms are also part of the NPS phenotype. In addition, the first data on the incidence of glaucoma and gastrointestinal (GI) symptoms in NPS are presented. NPS is caused by loss of function mutations in the transcription factor LMX1B at 9q34. The expansion of the clinical phenotype is supported by the role of LMX1B during development.