The Journal of clinical endocrinology and metabolism · 2014
Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism.
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Lambert Anne-Sophie, Grybek Virginie, Francou Bruno, Esterle Laure, Bertrand Guylène, Bouligand Jérôme, Guiochon-Mantel Anne, Hieronimus Sylvie, Voitel Dorit, Soskin Sylvie, Magdelaine Corinne, Lienhardt Anne, Silve Caroline, Linglart Agnès
Аннотация
BACKGROUND: Except after neck surgery, hypoparathyroidism is a rare disease caused by defects in genes involved in parathyroid gland development (TBX1/22q11.2 del, GCMB, GATA3, TBCE) or function [calcium sensing receptor (CASR), GNA11, PTH], or the autoimmune polyglandular syndrome type 1 (AIRE). Approximately 90% of sporadic cases and 30% of familial cases of isolated hypoparathyroidism remain unexplained. Recurrent missense mutations in AP2S1, a calcium-sensing receptor regulator, have been recently identified in familial hyperparathyroidism.
AIM: The aim of the study was to investigate AP2S1 as a putative hypoparathyroidism-causing gene.
METHODS: Sequencing analysis and quantitative genomic PCR of the AP2S1 gene in a large cohort of 10 index cases (from nine families) and 50 sporadic cases affected with isolated hypoparathyroidism were investigated.
RESULTS AND CONCLUSIONS: None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism.
AIM: The aim of the study was to investigate AP2S1 as a putative hypoparathyroidism-causing gene.
METHODS: Sequencing analysis and quantitative genomic PCR of the AP2S1 gene in a large cohort of 10 index cases (from nine families) and 50 sporadic cases affected with isolated hypoparathyroidism were investigated.
RESULTS AND CONCLUSIONS: None of the 60 patients presented with nucleotidic changes or copy number variation in the AP2S1 gene, thereby excluding AP2S1 defects as a frequent cause of isolated hypoparathyroidism.