title: A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
abstract: The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance. A 17-year-old girl visited our clinic for the evaluation and treatment of proteinuria. She had dystrophic nails, palpable iliac horns, and hypoplastic patellae. Electron microscopy of a renal biopsy showed irregular thickening of the glomerular basement membrane. A family history over three generations revealed five affected family members. Genetic analysis found a change of TCG to TCC, resulting in a synonymous alteration at codon 219 in exon 4 of the LMX1B gene in two affected family members. The same alteration was not detected in an unaffected family member. This is the first report of familial nail-patella syndrome associated with an LMX1B in Korea mutation, However, we can not completely rule out the possibility that the G-to-C change may be a single nucleotide polymorphism as this genetic mutation cause no alteration in amino acid sequence of LMX1B.
authors.affiliation: Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.
authors.forename: Joo Ho
authors.initials: JH
authors.lastname: Ham
authors.forename: Seok Joon
authors.initials: SJ
authors.lastname: Shin
authors.forename: Kyu Re
authors.initials: KR
authors.lastname: Joo
authors.forename: Sung Min
authors.initials: SM
authors.lastname: Park
authors.forename: Hye Young
authors.initials: HY
authors.lastname: Sung
authors.forename: Joong Seok
authors.initials: JS
authors.lastname: Kim
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Choi
authors.forename: Yeong Jin
authors.initials: YJ
authors.lastname: Choi
authors.forename: Ho Cheol
authors.initials: HC
authors.lastname: Song
authors.forename: Eui Jin
authors.initials: EJ
authors.lastname: Choi
mesh_terms: D000293:Adolescent; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D060850:LIM-Homeodomain Proteins; D009154:Mutation; D009261:Nail-Patella Syndrome / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors