A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.
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.
Ham
Joo Ho
JH
Department of Internal Medicine, The Catholic University of Korea College of Medicine, Seoul, Korea.
Shin
Seok Joon
SJ
Joo
Kyu Re
KR
Park
Sung Min
SM
Sung
Hye Young
HY
Kim
Joong Seok
JS
Choi
Jin Soo
JS
Choi
Yeong Jin
YJ
Song
Ho Cheol
HC
Choi
Eui Jin
EJ
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*
D018398:Homeodomain Proteins; C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors