title: Nail patella syndrome: a review of the phenotype aided by developmental biology.
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.
authors.affiliation: Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children's Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK. elizabeth.sweeney@rlch-tr.nwest.nhs.uk
authors.forename: E
authors.initials: E
authors.lastname: Sweeney
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: R
authors.initials: R
authors.lastname: Mountford
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: I
authors.initials: I
authors.lastname: McIntosh
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D000843:Ankle Joint / Q000002:abnormalities / Q000503:physiopathology; D001416:Back Pain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004550:Elbow / Q000002:abnormalities / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005384:Finger Joint / Q000002:abnormalities / Q000503:physiopathology; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007719:Knee Joint / Q000002:abnormalities / Q000503:physiopathology; D060850:LIM-Homeodomain Proteins; D008297:Male; D008875:Middle Aged; D009068:Movement / Q000502:physiology; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics* / Q000473:pathology*; D009264:Nails, Malformed; D010641:Phenotype; D014157:Transcription Factors
chemical_list: D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors