PMID- 21468522
OWN - NLM
STAT- MEDLINE
DCOM- 20111024
LR  - 20190918
IS  - 1677-9487 (Electronic)
IS  - 0004-2730 (Linking)
VI  - 55
IP  - 1
DP  - 2011 Feb
TI  - New mutation in the CASR gene in a family with familial hypocalciuric 
      hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).
PG  - 67-71
LID - S0004-27302011000100009 [pii]
AB  - A loss of calcium-sensing receptor (CASR) function due to inactivating mutations 
      can cause familial hypocalciuric hypercalcemia (FHH) or neonatal severe 
      hyperparathyroidism (NSHPT). NSHPT represents the most severe expression of FHH 
      and courses as a life-threatening condition. The aim of this study was to 
      identify and characterize a CASR mutation in a female infant brought to the 
      health service due to dehydration, apathy, lack of breast feeding and severe 
      hypercalcemia. Molecular analysis was performed on genomic DNA of the index case 
      and her parents. A novel homozygous mutation (p.E519X) in CASR was identified in 
      the proband; both mother and father had the same mutation in heterozygous state, 
      confirming their FHH condition. The mutation results in a truncated and inactive 
      protein due to the lack of transmembrane and intracellular domains. The 
      identification of this novel CASR gene mutation established the basis of 
      hypercalcemia in this family and allowed a genetic counseling.
FAU - Rodrigues, Luiza Souza
AU  - Rodrigues LS
AD  - Laboratory of Molecular Genetics and Hormones, Division of Endocrinology, 
      Hospital das Clinicas, Faculdade de Medicina, Universidade de Sao Paulo, Sao 
      Paulo, SP, Brazil.
FAU - Cau, Ana Carolina Arias
AU  - Cau AC
FAU - Bussmann, Luciane Zgoda
AU  - Bussmann LZ
FAU - Bastida, Gabriela
AU  - Bastida G
FAU - Brunetto, Oscar H
AU  - Brunetto OH
FAU - Correa, Pedro Henrique Silveira
AU  - Correa PH
FAU - Martin, Regina Matsunaga
AU  - Martin RM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Brazil
TA  - Arq Bras Endocrinol Metabol
JT  - Arquivos brasileiros de endocrinologia e metabologia
JID - 0403437
RN  - 0 (CASR protein, human)
RN  - 0 (Receptors, Calcium-Sensing)
RN  - Hypocalciuric hypercalcemia, familial, type 1
SB  - IM
MH  - Female
MH  - Humans
MH  - Hypercalcemia/blood/*congenital/genetics
MH  - Hyperparathyroidism/*genetics/surgery
MH  - Infant
MH  - Infant, Newborn
MH  - Mutation/*genetics
MH  - Pedigree
MH  - Receptors, Calcium-Sensing/*genetics
MH  - Recurrence
EDAT- 2011/04/07 06:00
MHDA- 2011/10/25 06:00
CRDT- 2011/04/07 06:00
PHST- 2010/07/31 00:00 [received]
PHST- 2011/01/19 00:00 [accepted]
PHST- 2011/04/07 06:00 [entrez]
PHST- 2011/04/07 06:00 [pubmed]
PHST- 2011/10/25 06:00 [medline]
AID - S0004-27302011000100009 [pii]
AID - 10.1590/s0004-27302011000100009 [doi]
PST - ppublish
SO  - Arq Bras Endocrinol Metabol. 2011 Feb;55(1):67-71. doi: 
      10.1590/s0004-27302011000100009.