RGD Reference Report - Phenotypic variation in a large family with autosomal dominant hypocalcaemia. - Rat Genome Database

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Phenotypic variation in a large family with autosomal dominant hypocalcaemia.

Authors: Sorheim, JI  Husebye, ES  Nedrebo, BG  Svarstad, E  Lind, J  Boman, H  Lovas, K 
Citation: Sorheim JI, etal., Horm Res Paediatr. 2010;74(6):399-405. doi: 10.1159/000303188. Epub 2010 May 26.
RGD ID: 7205656
Pubmed: PMID:20501971   (View Abstract at PubMed)
DOI: DOI:10.1159/000303188   (Journal Full-text)

BACKGROUND/AIMS: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations in the calcium- sensing receptor (CASR). We aimed to describe the phenotypic variation within a large family with ADH, especially kidney and cerebral basal ganglia calcifications. METHODS: Fifteen related subjects carrying the CASR mutation T151M participated in a cross-sectional study of calcium homeostasis, renal ultrasonography, cerebral CT, bone mineral density, and health-related quality of life (HRQoL). RESULTS: Eight subjects had received vitamin D treatment (mean duration 15.3 years; range 11-20 years). Urinary calcium excretion was elevated in 5/8 vitamin-D-treated and in 3/7 untreated subjects. Serum magnesium, calcium and parathyroid hormone remained at the lower reference limit or below. Renal calcifications were found in 12 of 14 (86%) and basal ganglia calcifications in 5 of 11 (46%) subjects, independently of vitamin D therapy. The glomerular filtration rate was moderately reduced in 3 subjects. Mean bone mineral density and bone markers were normal. HRQoL was impaired in the vitamin-D-treated group despite correction of the hypocalcaemia. CONCLUSIONS: The impact of the CASR mutation on calcium homeostasis varied greatly. Kidney and basal ganglia calcifications are common in ADH independently of vitamin D treatment, which, however, increases urinary calcium excretion and may promote urolithiasis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autosomal dominant hypocalcemia  IAGP 7205656DNA:missense mutation:cds:p.T151M (human)RGD 
autosomal dominant hypocalcemia  ISOCASR (Homo sapiens)7205656; 7205656DNA:missense mutation:cds:p.T151M (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Casr  (calcium-sensing receptor)

Genes (Mus musculus)
Casr  (calcium-sensing receptor)

Genes (Homo sapiens)
CASR  (calcium sensing receptor)


Additional Information