Nail-Patella Syndrome: A Report of a Saudi Arab Family With an Autosomal Recessive Inheritance.

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.