Mutations of this gene cause primary hypomagnesaemia.
Only few families have been described.
The gene has a size of 23 kb. It is also known as paracellin-1 (PCLN1). Recent evidence has shown that this gene belongs to a family called claudines. It consists of 5 exons and it is located on chromosome 3 (3q27).
The predominant clinical symptom is hypomagnesemia accompanied by hypercalciuria. This condition predisposes to the development of kidney stones in heterozygous patients. In contrary, in homozygous patients there is nephrocalcinosis and renal failure in childhood.
The translation product is a 305 amino acid proteine that consists of 4 transmembrane domains and intracellular amino- and C-termini. The protein is exclusively found in the kidney. Along the nephron it is located in the thick ascending limb of Henle's loop and in the distal convolution where it forms tight junction together with occludin. Obviously it regulates net paracellular magnesium flux.
Predominant indications for molecular diagnostic are family counseling and improvement of diagnostic precision.
The therapeutic consequences include family counseling and prophylaxis for kidney stone formation.
Clinic | Method | Carrier testing |
Turnaround | 5 days | |
Specimen type | genomic DNA |
Clinic | Method | Massive parallel sequencing |
Turnaround | 25 days | |
Specimen type | genomic DNA |
Clinic | Method | Genomic sequencing of the entire coding region |
Turnaround | 10 days | |
Specimen type | genomic DNA |
Clinic | Method | Multiplex Ligation-Dependent Probe Amplification |
Turnaround | 20 days | |
Specimen type | genomic DNA |
1. |
Weber S et al. (2000) Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. |
2. |
Konrad M et al. (2004) Insights into the molecular nature of magnesium homeostasis. |
3. |
Orphanet article Orphanet ID 120625 |
4. |
NCBI article NCBI 10686 |
5. |
OMIM.ORG article Omim 603959 |
6. |
Wikipedia article Wikipedia EN (CLDN16) |