PMID- 21667241
OWN - NLM
STAT- MEDLINE
DCOM- 20120525
LR  - 20211020
IS  - 1573-4978 (Electronic)
IS  - 0301-4851 (Linking)
VI  - 39
IP  - 3
DP  - 2012 Mar
TI  - A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental 
      retardation.
PG  - 2395-400
LID - 10.1007/s11033-011-0990-0 [doi]
AB  - 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.
FAU - Sfar, Sana
AU  - Sfar S
AD  - Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, 5019 Monastir, 
      Tunisia. sfarsana@yahoo.fr
FAU - Bzeouich, Ahlem Afaya
AU  - Bzeouich AA
FAU - Kerkeni, Emna
AU  - Kerkeni E
FAU - Bouaziz, Sofiane
AU  - Bouaziz S
FAU - Najjar, Mohamed Fadhel
AU  - Najjar MF
FAU - Chouchane, Lotfi
AU  - Chouchane L
FAU - Monastiri, Kamel
AU  - Monastiri K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110612
PL  - Netherlands
TA  - Mol Biol Rep
JT  - Molecular biology reports
JID - 0403234
RN  - 0 (DNA Primers)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Base Sequence
MH  - DNA Mutational Analysis
MH  - DNA Primers/genetics
MH  - Female
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease/*genetics
MH  - Humans
MH  - Hypercalcemia/*congenital/genetics
MH  - Hyperparathyroidism/*genetics
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length/genetics
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Sequence Deletion/*genetics
MH  - Tunisia
EDAT- 2011/06/15 06:00
MHDA- 2012/05/26 06:00
CRDT- 2011/06/14 06:00
PHST- 2010/07/19 00:00 [received]
PHST- 2011/05/28 00:00 [accepted]
PHST- 2011/06/14 06:00 [entrez]
PHST- 2011/06/15 06:00 [pubmed]
PHST- 2012/05/26 06:00 [medline]
AID - 10.1007/s11033-011-0990-0 [doi]
PST - ppublish
SO  - Mol Biol Rep. 2012 Mar;39(3):2395-400. doi: 10.1007/s11033-011-0990-0. Epub 2011 
      Jun 12.