RGD Reference Report - A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation. - Rat Genome Database

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A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation.

Authors: Sfar, S  Bzeouich, AA  Kerkeni, E  Bouaziz, S  Najjar, MF  Chouchane, L  Monastiri, K 
Citation: Sfar S, etal., Mol Biol Rep. 2012 Mar;39(3):2395-400. doi: 10.1007/s11033-011-0990-0. Epub 2011 Jun 12.
RGD ID: 7205468
Pubmed: PMID:21667241   (View Abstract at PubMed)
DOI: DOI:10.1007/s11033-011-0990-0   (Journal Full-text)

The calcium-sensing receptor (CASR), a plasma membrane G-protein coupled receptor, is expressed in parathyroid gland and kidney, and controls systemic calcium homeostasis. Inactivating CASR mutations have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). The aim of the present study is to determine the underlying molecular defect of FHH/NSHPT disease in a consanguineous Tunisian family. Mutation screening was carried out using RFLP-PCR and direct sequencing. We found that the proband is homozygous for a novel 15 bp deletion in the exon 7 (c.1952_1966del) confirming the diagnosis of NSHPT. All the FHH members were found to be heterozygous for the novel detected mutation. The mutation, p.S651_L655del, leads to the deletion of 5 codons in the second trans-membrane domain of the CASR which is thought to be involved in the processes of ligand-induced signaling. This alteration was associated with the evidence of mental retardation in the FHH carriers and appears to be a novel inactivating mutation in the CASR gene. Our findings provide additional support for the implication of CASR gene in the FHH/NSHPT pathogenesis.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
intellectual disability  IAGP 7205468associated with Hypocalciuric Hypercalcemia more ...RGD 
intellectual disability  ISOCASR (Homo sapiens)7205468; 7205468associated with Hypocalciuric Hypercalcemia more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Neurodevelopmental abnormality  IAGP 7205468associated with Hypocalciuric Hypercalcemia more ...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