Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.

Alejandro García Castaño Ana Perdomo-Ramírez Mònica Vall-Palomar Elena Ramos-Trujillo Leire Madariaga Gema Ariceta Felix Claverie-Martin

Published in: Molecular genetics & genomic medicine (2020)

Using direct sequencing and our QMPSF assay, we identified the genetic cause of FHHNC in our patient. This QMPSF assay should facilitate the genetic diagnosis of FHHNC. Our study provided additional data on the genotypic spectrum of the CLDN16 gene.

Keyphrases

genome wide
copy number
case report
high throughput
early onset
single cell
dna methylation