A neonatal case of autosomal dominant hypoparathyroidism without mutation of the CASR gene

Clinical Pediatric Endocrinology

Volumn 17, Issue 1, 2008, Pages 17-22

  Miyata, Ichiro ^a   Yoshikawa, Hideki ^a   Kurokawa, Naokiyo ^a   Kanno, Kei Ichi ^a   Hayashi, Yoshihiro ^a   Eto, Yoshikatsu ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal dominant hypoparathyroidism; Calcium sensing receptor gene; Hypocalcemia

Indexed keywords

ALFACALCIDOL; CALCIUM; CALCIUM LACTATE; CALCIUM SENSING RECEPTOR; CREATININE; GLUCONATE CALCIUM; MAGNESIUM SULFATE; PARATHYROID HORMONE; TRICHLORMETHIAZIDE; VITAMIN D;

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BREECH PRESENTATION; CALCIUM BLOOD LEVEL; CALCIUM URINE LEVEL; CASE REPORT; CESAREAN SECTION; CONCENTRATION RESPONSE; CONTINUOUS INFUSION; CREATININE BLOOD LEVEL; DNA SEQUENCE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HYPERCALCIURIA; HYPERPHOSPHATEMIA; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPOPARATHYROIDISM; IDIOPATHIC HYPOPARATHYROIDISM; MOLECULAR GENETICS; NEWBORN; PARATHYROID HORMONE BLOOD LEVEL;

EID: 40449085913     PISSN: 09185739     EISSN: 13477358     Source Type: Journal    
DOI: 10.1297/cpe.17.17     Document Type: Article

References (18)

1. Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000;343:1863-75.
2. Thakker RV. Genetic developments in hypoparathyroidism. Lancet 2001;357:974-6.
3. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 2000;406:419-22.
4. Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM. Mutations of the signal peptide encoding region of preproparathyroid hormone gene in isolated hypoparathyroidism. J Clin Invest 1990;86:1084-7.
5. Parkinson DB, Thakker RV. A donor splice mutation in the parathyroid hormone gene in association with autosomal recessive hypoparathyroidism. Nat Genet 1992;1:149-53.
6. 2+-sensing receptor gene mutation. Nat Genet 1994;8:303-7.
7. 2+ and maximal signal transduction. Pediatr Res 1997;42:443-7.
8. 2+-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism. Hum Genet 1996;98:129-33.
9. Pearce SH, Bai M, Quinn SJ, Kifor O, Brown EM, Thakker RV. Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells. J Clin Invest 1996;98:1860-66.
10. Watanabe T, Bai M, Lane CR, Matsumoto S, Minamitani K, Minagawa M, et al. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab 1998;83:2497-502.
11. Lienhardt A, Garabedian M, Bai M, Sinding C, Zhang Z, Lagarde JP, et al. A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia. J Clin Endocrinol Metab 2000;85:1695-702.
12. 2+-sensing receptor from bovine parathyroid. Nature 1993;366:575-80.
13. 2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 1996;5:601-6.
14. 2+-sensing receptor. J Clin Endocrinol Metab 1997;82:2710-5.
15. Okazaki R, Chikatsu N, Nakatsu M, Takeuchi Y, Ajima M, Miki J, et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 1999;84:363-6.
16. Pearce SH, Williamson C, Kifor O, Bai M, Coulthard MG, Davies M, et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Eng J Med 1996;335:1115-22.
17. Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, et al. Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab 2002;87:3068-73.
18. Chikatsu N, Watanabe S, Takeuchi Y, Muraosa Y, Sasaki S, Oka Y, et al. A family of autosomal dominant hypocalcemia with an activating mutation of calcium-sensing receptor gene. Endocr J 2003;50:91-6.