A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

Benjamin Kwan*, Bernard Champion, Steven Boyages, Craig F. Munns, Roderick Clifton-Bligh, Catherine Luxford, Bronwyn Crawford

*Corresponding author for this work

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Abstract

Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members.

Original languageEnglish
Article number180107
Pages (from-to)1-4
Number of pages4
JournalEndocrinology diabetes and metabolism case reports
Volume2018
Issue number1
DOIs
Publication statusPublished - Oct 2018

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Copyright the Author(s) 2018. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.

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