Nephrocystin 1

Homozygous or compound heterozygous mutations of NPHP1 cause nephronophthisis 1, Senior-Loken syndrome 1, or Joubert syndrome 4.

Gene Structure

The NPHP1 gene, which is located on chromosome 2 (2q13) spans about 85kb. Two spice variants exists with 20 and 4 exons. In the shorter splice variant, exon 4 is 376 bases longer.

Pathology

Nearly 80% of patients with nephronophthisis 1 show a homozygous deletion of about 290 kb. But splice and missense mutations have also been reported.[Error: Macro 'ref' doesn't exist]

Test Strategy

As in many patients a homozygous deletion of a large part of the gene is the cause of disease, in most cases the diagnosis can be proved by demonstrating amplification failure during the first step of sequencing analysis.

Genetests:

Related Diseases:

Nephronophthisis 01
	NPHP1

Senior-Loken syndrome 1
	NPHP1

Joubert syndrome 04
	NPHP1