Nail-Patella Syndrome

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.

Conclusion:

This finding supports the autosomal recessive mode of inheritance in this family.