LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the hands
- *Corresponding Author:
- Dr. Mohammed Al Balwi
Department of Pathology and Laboratory Medicine
King Abdulaziz Medical City
Po Box 22490, Riyadh 11426
Kingdom of Saudi Arabia, Saudi Arabia
Tel: +9661252 0088 ext. 11287
Fax: +9661252 0130
E-mail: [email protected]
Received date: September 08, 2011; Accepted date:November 14, 2011; Published date: November 17, 2011
Citation: Abdulkareem IAI, Abdi S, Fawaz MAI, Balwi MAl (2011) LMX1B gene mutation in a Saudi patient with bilateral symmetrical hypoplastic nails of the upper limbs. J Genet Syndr Gene Ther 2:108. doi:10.4172/2157-7412.1000108
Copyright: © 2011 Abdulkareem IAI, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Nail-patella syndrome (NPS) is a rare autosomal dominant disorder that is highly penetrant with marked phonotypical variability among inter- and intra-familial cases. We describe here a patient with a characteristic phenotype of familial bilateral symmetrical hypoplastic nails of the upper limbs and a small patella displaced by ultrasound. This patient has a homozygous mutation in the gene encoding LIM homeobox transcription factor 1 beta (LMX1B). Molecular DNA sequencing revealed that this is the first report in the literature linking a homozygous c.268C>T (p.Phe90Leu) mutation located within the highly conserved LIM-A domain of the LMX1B gene with presentation of NPS. Familial molecular analysis showed that both parents are heterozygous for the c.268C>T mutation. Therefore, prenatal diagnosis and genetic counselling are important considerations for family future planning.