LIM homeobox transcription factor 1 beta

The LMX1B gene encodes a transcription factor which among others regulates the transcription of the collagen 4 genes essential for the glomerular basement membrane. Mutation cause the autosomal dominat nail-patella syndrome.

Epidemiology

The incidence of the disease caused by LMX1B mutations is about 1 in 50,000 live births. The probability of new mutations seems to increase with father's age.

Phenotype

Mutations of the LMX1B gene cause an autosomal dominant disorder called nail-patella syndrome, which involves skeletal abnormalities (dysplasia of the nails, patellar aplasia or hypoplasia, iliac horns, dysplasia of the elbows) and is often associated with hereditary glaucoma and progressive nephropathy.

Gene Regulation

The gene product of LMX1B is a LIM-homeodomain transcription factor, which plays a role in skeletal and kidney development. It regulates normal patterning of the dorsoventral axis of the limbs. In the kidneys the gene is predominantly expressed by podocytes, where it regulates the translation of many crucial genes, such as COL4A4, COL4A3, CD2AP, NPHS2, and NPHS1.

Genetests:

Related Diseases:

Nail-patella syndrome
	LMX1B