title: Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.
abstract: BACKGROUND
  Nail-patella syndrome (NPS) is an autosomal dominant disorder with a variable interfamilial and intrafamilial clinical expressivity and penetrance. It is caused by loss-of-function heterozygous mutation in the LIM-homeodomain transcription factor (LMX1B) located on chromosome 9q. The pleiotropic LMB1X gene, a member of the homeogene family, is involved in the development of glomerular basement membrane, dorsoventral limb structures, along with the nails and the anterior segment of the eye.
  
  
  OBJECTIVE
  Here, we report a Saudi Arab consanguineous family with 2 affected sisters presented with the typical nail changes of NPS.
  
  
  METHODS
  DNA samples were collected from the sisters and their parents after consent.
  
  
  RESULTS
  Both sisters were found to be homozygous for a previously described disease-causing mutation (c.268C>T) at the (LMX1B) gene. Both of the phenotypically normal parents were confirmed to be heterozygous for the same mutation.
  
  
  CONCLUSIONS
  This finding supports the autosomal recessive mode of inheritance in this family.
authors.affiliation: Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia Najla.aldawsari@gmail.com.
authors.forename: Najla
authors.initials: N
authors.lastname: Al-Dawsari
authors.affiliation: Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia.
authors.forename: Ahmed
authors.initials: A
authors.lastname: Al-Mokhadam
authors.affiliation: Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia.
authors.forename: Hind
authors.initials: H
authors.lastname: Al-Abdulwahed
authors.affiliation: Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arbia.
authors.forename: Nouriya
authors.initials: N
authors.lastname: Al-Sannaa
mesh_terms: D000328:Adult; D018912:Arabs / Q000235:genetics*; D005260:Female; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012529:Saudi Arabia; D055815:Young Adult
keywords: dermatology; pediatric