Open AccessA novel mutation in the calcium-sensing receptor in a French family with familial hypocalciuric hypercalcaemia
Author(s) -
Abdallah AlSalameh,
Filomena Cetani,
Elena Pardi,
Carmen Vulpoi,
P. Pierre,
Loïc de Calan,
Serge Guyétant,
Xavier Jeunemaı̂tre,
Pierre Lecomte
Publication year - 2011
Publication title -
european journal of endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.897
H-Index - 148
eISSN - 1479-683X
pISSN - 0804-4643
DOI - 10.1530/eje-11-0141
Subject(s) - calcium sensing receptor , endocrinology , medicine , mutation , mutant , exon , hypercalcaemia , transfection , hypocalciuria , calcium , chemistry , calcium metabolism , gene , hypomagnesemia , biochemistry , organic chemistry , magnesium
The calcium-sensing receptor (CASR) has an important role in calcium homoeostasis by controlling PTH secretion and renal calcium handling. Inactivating mutations in the CASR gene (HGNC ID: 1514) cause familial hypocalciuric hypercalcaemia (FHH). We present a case of FHH patient to describe a novel mutation in the CASR.
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