Mutation in the Tight-Junction Gene Claudin 19 (CLDN19) and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease | Zendy

Muhammad Naeem | Zendy; Sofia Hussain | Zendy; Naureen Akhtar | Zendy

Open Access

Mutation in the Tight-Junction Gene Claudin 19 <i>(CLDN19)</i> and Familial Hypomagnesemia, Hypercalciuria, Nephrocalcinosis (FHHNC) and Severe Ocular Disease

Author(s) -

Muhammad Naeem,

Sofia Hussain,

Naureen Akhtar

Publication year - 2011

Publication title -

american journal of nephrology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.394

H-Index - 85

eISSN - 1421-9670

pISSN - 0250-8095

DOI - 10.1159/000330854

Subject(s) - nephrocalcinosis , hypercalciuria , proband , missense mutation , genetics , mutation , exon , genotyping , medicine , biology , gene , genotype , urinary system , kidney

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare renal tubular disorder complicated by progressive renal failure during childhood or adolescence. Recently, causative mutations in the CLDN19 gene have been identified in FHHNC patients presenting with severe ocular involvement. The aim of the study was to investigate the molecular genetic defect underlying FHHNC in a consanguineous Pakistani family.

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