메뉴 건너뛰기




Volumn 19, Issue 6, 2013, Pages 1035-1042

The syndrome of hypoparathyroidism, deafness, and renal anomalies

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM PHOSPHATE; PARATHYROID HORMONE; PHOSPHATE BINDING AGENT; RECOMBINANT PARATHYROID HORMONE; THIAZIDE DIURETIC AGENT; TRANSCRIPTION FACTOR GATA 3; VITAMIN D; WT1 PROTEIN;

EID: 84888858943     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP13050.RA     Document Type: Review
Times cited : (26)

References (50)
  • 2
    • 0026728345 scopus 로고
    • Brief report: Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia
    • Bilous RW, Murty G, Parkinson DB, et al. Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med. 1992; 327:1069-1074.
    • (1992) N Engl J Med , vol.327 , pp. 1069-1074
    • Bilous, R.W.1    Murty, G.2    Parkinson, D.B.3
  • 3
    • 0025291908 scopus 로고
    • The candidate Wilms' tumour gene is involved in genitourinary development
    • Pritchard-Jones K, Fleming S, Davidson D, et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature. 1990;346:194-197.
    • (1990) Nature , vol.346 , pp. 194-197
    • Pritchard-Jones, K.1    Fleming, S.2    Davidson, D.3
  • 4
    • 1642602480 scopus 로고    scopus 로고
    • An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14
    • Lichtner P, König R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet. 2000;37:33-37.
    • (2000) J Med Genet , vol.37 , pp. 33-37
    • Lichtner, P.1    König, R.2    Hasegawa, T.3    Van Esch, H.4    Meitinger, T.5    Schuffenhauer, S.6
  • 5
    • 0034721115 scopus 로고    scopus 로고
    • GATA3 haplo-insufficiency causes human HDR syndrome
    • Van Esch H, Groenen P, Nesbit MA, et al. GATA3 haplo-insufficiency causes human HDR syndrome. Nature. 2000;406:419-422.
    • (2000) Nature , vol.406 , pp. 419-422
    • Van Esch, H.1    Groenen, P.2    Nesbit, M.A.3
  • 6
    • 2542471328 scopus 로고    scopus 로고
    • Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
    • Nesbit MA, Bowl MR, Harding B, et al. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem. 2004;279:22624-22634.
    • (2004) J Biol Chem , vol.279 , pp. 22624-22634
    • Nesbit, M.A.1    Bowl, M.R.2    Harding, B.3
  • 7
    • 33847303673 scopus 로고    scopus 로고
    • Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor
    • Ali A, Christie PT, Grigorieva IV, et al. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor. Hum Mol Genet. 2007;16:265-275.
    • (2007) Hum Mol Genet , vol.16 , pp. 265-275
    • Ali, A.1    Christie, P.T.2    Grigorieva, I.V.3
  • 8
    • 63749128216 scopus 로고    scopus 로고
    • HDR syndrome: A novel "de novo" mutation in GATA3 gene
    • Ferraris S, Del Monaco AG, Garelli E, et al. HDR syndrome: a novel "de novo" mutation in GATA3 gene. Am J Med Genet A. 2009;149A:770-775.
    • (2009) Am J Med Genet A , vol.149 A , pp. 770-775
    • Ferraris, S.1    Del Monaco, A.G.2    Garelli, E.3
  • 9
    • 79952710110 scopus 로고    scopus 로고
    • Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
    • Nakamura A, Fujiwara F, Hasegawa Y, et al. Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome. Endocr J. 2011;58:123-130.
    • (2011) Endocr. J. , vol.58 , pp. 123-130
    • Nakamura, A.1    Fujiwara, F.2    Hasegawa, Y.3
  • 11
    • 0028212869 scopus 로고
    • Human GATA-3 trans-activation DNA-binding and nuclear localization activities are organized into distinct structural domains
    • Yang Z, Gu L, Romeo PH, et al. Human GATA-3 trans-activation, DNA-binding, and nuclear localization activities are organized into distinct structural domains. Mol Cell Biol. 1994;14:2201-2212.
    • (1994) Mol Cell Biol , vol.14 , pp. 2201-2212
    • Yang, Z.1    Gu, L.2    Romeo, P.H.3
  • 12
    • 0036668278 scopus 로고    scopus 로고
    • The GATA family (vertebrates and invertebrates)
    • Patient RK, McGhee JD. The GATA family (vertebrates and invertebrates). Curr Opin Genet Dev. 2002;12:416-422.
    • (2002) Curr Opin Genet Dev , vol.12 , pp. 416-422
    • Patient, R.K.1    McGhee, J.D.2
  • 13
    • 0033166970 scopus 로고    scopus 로고
    • Embryonic expression of the human GATA-3 gene
    • Debacker C, Catala M, Labastie MC. Embryonic expression of the human GATA-3 gene. Mech Dev. 1999;85: 183-187.
    • (1999) Mech Dev , vol.85 , pp. 183-187
    • Debacker, C.1    Catala, M.2    Labastie, M.C.3
  • 14
    • 0034856120 scopus 로고    scopus 로고
    • Transcription factor GATA3 and the human HDR syndrome
    • Van Esch H, Devriendt K. Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci. 2001;58: 1296-1300.
    • (2001) Cell Mol Life Sci , vol.58 , pp. 1296-1300
    • Van Esch, H.1    Devriendt, K.2
  • 15
    • 0036382663 scopus 로고    scopus 로고
    • GATA proteins identify a novel ventral interneuron subclass in the developing chick spinal cord
    • Karunaratne A, Hargrave M, Poh A, Yamada T. GATA proteins identify a novel ventral interneuron subclass in the developing chick spinal cord. Dev Biol. 2002;249:30-43.
    • (2002) Dev Biol , vol.249 , pp. 30-43
    • Karunaratne, A.1    Hargrave, M.2    Poh, A.3    Yamada, T.4
  • 16
    • 0033563363 scopus 로고    scopus 로고
    • GATA-3 is involved in the development of serotonergic neurons in the caudal raphe nuclei
    • van Doorninck JH, van Der Wees J, Karis A, et al. GATA-3 is involved in the development of serotonergic neurons in the caudal raphe nuclei. J Neurosci. 1999; 19:RC12.
    • (1999) J Neurosci , vol.19
    • Van Doorninck, J.H.1    Van Der Wees, J.2    Karis, A.3
  • 17
    • 0034979425 scopus 로고    scopus 로고
    • GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
    • Muroya K, Hasegawa T, Ito Y, et al. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet. 2001;38:374-380.
    • (2001) J Med Genet , vol.38 , pp. 374-380
    • Muroya, K.1    Hasegawa, T.2    Ito, Y.3
  • 18
    • 2342545537 scopus 로고    scopus 로고
    • Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder
    • Van der Wees J, van Looij MA, de Ruiter MM, et al. Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis. 2004;16:169-178.
    • (2004) Neurobiol Dis , vol.16 , pp. 169-178
    • Van Der Wees, J.1    Van Looij, M.A.2    De Ruiter, M.M.3
  • 19
    • 48249139479 scopus 로고    scopus 로고
    • HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities
    • Taslipinar A, Kebapcilar L, Kutlu M, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities. Intern Med. 2008;47:1003-1007.
    • (2008) Intern Med , vol.47 , pp. 1003-1007
    • Taslipinar, A.1    Kebapcilar, L.2    Kutlu, M.3
  • 20
    • 34248658849 scopus 로고    scopus 로고
    • Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis
    • Kato Y, Wada N, Numata A, Kakizaki H. Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis. Int J Urol. 2007;14:440-442.
    • (2007) Int J Urol , vol.14 , pp. 440-442
    • Kato, Y.1    Wada, N.2    Numata, A.3    Kakizaki, H.4
  • 21
    • 34247249253 scopus 로고    scopus 로고
    • Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations
    • Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, Del Castillo I. Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations. Am J Med Genet A. 2007;143:757-762.
    • (2007) Am J Med Genet A , vol.143 , pp. 757-762
    • Hernández, A.M.1    Villamar, M.2    Roselló, L.3    Moreno-Pelayo, M.A.4    Moreno, F.5    Del Castillo, I.6
  • 22
    • 32944459130 scopus 로고    scopus 로고
    • A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome)
    • Adachi M, Tachibana K, Asakura Y, Tsuchiya T. A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome). J Pediatr Endocrinol Metab. 2006;19:87-92.
    • (2006) J Pediatr Endocrinol Metab , vol.19 , pp. 87-92
    • Adachi, M.1    Tachibana, K.2    Asakura, Y.3    Tsuchiya, T.4
  • 23
    • 20244388392 scopus 로고    scopus 로고
    • Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
    • Zahirieh A, Nesbit MA, Ali A, et al. Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab. 2005;90:24ddd45-2450.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 2445-2450
    • Zahirieh, A.1    Nesbit, M.A.2    Ali, A.3
  • 24
    • 80052474614 scopus 로고    scopus 로고
    • Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
    • Al-Shibli A, Al Attrach I, Willems PJ. Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia. Pediatr Nephrol. 2011;26:1167-1170.
    • (2011) Pediatr. Nephrol. , vol.26 , pp. 1167-1170
    • Al-Shibli, A.1    Al Attrach, I.2    Willems, P.J.3
  • 25
    • 77649228877 scopus 로고    scopus 로고
    • Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation
    • Muroya K, Mochizuki T, Fukami M, et al. Diabetes mellitus in a Japanese girl with HDR syndrome and GATA3 mutation. Endocr J. 2010;57:171-174.
    • (2010) Endocr J , vol.57 , pp. 171-174
    • Muroya, K.1    Mochizuki, T.2    Fukami, M.3
  • 26
    • 4344683221 scopus 로고    scopus 로고
    • Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications
    • Verri A, Maraschio P, Devriendt K, et al. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet. 2004;47:281-287.
    • (2004) Ann Genet , vol.47 , pp. 281-287
    • Verri, A.1    Maraschio, P.2    Devriendt, K.3
  • 27
    • 0025896785 scopus 로고
    • What is the psychiatric significance of bilateral basal ganglia mineralization?
    • Förstl H, Krumm B, Eden S, Kohlmeyer K. What is the psychiatric significance of bilateral basal ganglia mineralization? Biol Psychiatry. 1991;29:827-833.
    • (1991) Biol Psychiatry , vol.29 , pp. 827-833
    • Förstl, H.1    Krumm, B.2    Eden, S.3    Kohlmeyer, K.4
  • 28
    • 0024601169 scopus 로고
    • Psychopathological alterations in cases of symmetrical basal ganglia sclerosis
    • König P. Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biol Psychiatry. 1989;25: 459-468.
    • (1989) Biol Psychiatry , vol.25 , pp. 459-468
    • König, P.1
  • 29
    • 0028058986 scopus 로고
    • Human haploinsufficiency-one for sorrow, two for joy
    • Fisher E, Scambler P. Human haploinsufficiency-one for sorrow, two for joy. Nat Genet. 1994;7:5-7.
    • (1994) Nat Genet , vol.7 , pp. 5-7
    • Fisher, E.1    Scambler, P.2
  • 30
    • 45249114167 scopus 로고    scopus 로고
    • Diagnosis and management of hypocalcaemia
    • Cooper MS, Gittoes NJ. Diagnosis and management of hypocalcaemia. BMJ. 2008;336:1298-1302.
    • (2008) BMJ , vol.336 , pp. 1298-1302
    • Cooper, M.S.1    Gittoes, N.J.2
  • 31
    • 0038125588 scopus 로고    scopus 로고
    • Extracellular calcium sensing and signalling
    • Hofer AM, Brown EM. Extracellular calcium sensing and signalling. Nat Rev Mol Cell Biol. 2003;4:530-538.
    • (2003) Nat Rev Mol Cell Biol , vol.4 , pp. 530-538
    • Hofer, A.M.1    Brown, E.M.2
  • 32
    • 47949092540 scopus 로고    scopus 로고
    • Clinical practice. Hypoparathyroidism
    • Shoback D. Clinical practice. Hypoparathyroidism. N Engl J Med. 2008;359:391-403.
    • (2008) N Engl J Med , vol.359 , pp. 391-403
    • Shoback, D.1
  • 35
    • 84859005503 scopus 로고    scopus 로고
    • Clinical description of a patient carrying the smallest reported deletion involving 10p14 region
    • Melis D, Genesio R, Boemio P, et al. Clinical description of a patient carrying the smallest reported deletion involving 10p14 region. Am J Med Genet A. 2012;158A:832-835.
    • (2012) Am J Med Genet A. , vol.158 A , pp. 832-835
    • Melis, D.1    Genesio, R.2    Boemio, P.3
  • 36
    • 0028074909 scopus 로고
    • Hereditary hearing loss
    • Arnos KS. Hereditary hearing loss. N Engl J Med. 1994; 331:469-470.
    • (1994) N Engl J Med , vol.331 , pp. 469-470
    • Arnos, K.S.1
  • 37
    • 79952723825 scopus 로고    scopus 로고
    • GATA3 abnormalities in six patients with HDR syndrome
    • Fukami M, Muroya K, Miyake T, et al. GATA3 abnormalities in six patients with HDR syndrome. Endocr J. 2011;58:117-121.
    • (2011) Endocr J. , vol.58 , pp. 117-121
    • Fukami, M.1    Muroya, K.2    Miyake, T.3
  • 38
    • 78651350094 scopus 로고    scopus 로고
    • Novel dominant-negative mutant of GATA3 in HDR syndrome
    • Ohta M, Eguchi-Ishimae M, Ohshima M, et al. Novel dominant-negative mutant of GATA3 in HDR syndrome. J Mol Med (Berl). 2011;89:43-50.
    • (2011) J Mol Med (Berl). , vol.89 , pp. 43-50
    • Ohta, M.1    Eguchi-Ishimae, M.2    Ohshima, M.3
  • 39
    • 63749107779 scopus 로고    scopus 로고
    • Germinal mosaicism of GATA3 in a family with HDR syndrome
    • Sun Y, Xia W, Xing X, et al. Germinal mosaicism of GATA3 in a family with HDR syndrome. Am J Med Genet A. 2009;149A:776-778.
    • (2009) Am J Med Genet A , vol.149 A , pp. 776-778
    • Sun, Y.1    Xia, W.2    Xing, X.3
  • 40
    • 33845325332 scopus 로고    scopus 로고
    • A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome
    • Kobayashi H, Kasahara M, Hino M, et al. A novel heterozygous deletion frameshift mutation of GATA3 in a Japanese kindred with the hypoparathyroidism, deafness and renal dysplasia syndrome. J Endocrinol Invest. 2006; 29:851-853.
    • (2006) J Endocrinol Invest , vol.29 , pp. 851-853
    • Kobayashi, H.1    Kasahara, M.2    Hino, M.3
  • 42
    • 33751529515 scopus 로고    scopus 로고
    • Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population
    • Chiu WY, Chen HW, Chao HW, Yann LT, Tsai KS. Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population. J Clin Endocrinol Metab. 2006;91:4587-4592.
    • (2006) J Clin Endocrinol Metab , vol.91 , pp. 4587-4592
    • Chiu, W.Y.1    Chen, H.W.2    Chao, H.W.3    Yann, L.T.4    Tsai, K.S.5
  • 43
    • 64949185976 scopus 로고    scopus 로고
    • A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism
    • Saito T, Fukumoto S, Ito N, Suzuki H, Igarashi T, Fujita T. A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism. J Bone Miner Metab. 2009;27:386-389.
    • (2009) J Bone Miner Metab , vol.27 , pp. 386-389
    • Saito, T.1    Fukumoto, S.2    Ito, N.3    Suzuki, H.4    Igarashi, T.5    Fujita, T.6
  • 44
    • 84884561462 scopus 로고    scopus 로고
    • A novel GATA3 nonsense mutation in a newly diagnosed adult patient of Hypothyroidism Deafness and Renal dysplasia (HDR) syndrome
    • Nanba K, Usui T, Nakamura M, et al. A novel GATA3 nonsense mutation in a newly diagnosed adult patient of Hypothyroidism, Deafness, and Renal dysplasia (HDR) syndrome. Endocr Pract. 2013;19:e17-e20.
    • (2013) Endocr. Pract. , vol.19
    • Nanba, K.1    Usui, T.2    Nakamura, M.3
  • 45
    • 70349923432 scopus 로고    scopus 로고
    • A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome
    • Gaynor KU, Grigorieva IV, Nesbit MA, et al. A missense GATA3 mutation, Thr272Ile, causes the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab. 2009;94:3897-3904.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 3897-3904
    • Gaynor, K.U.1    Grigorieva, I.V.2    Nesbit, M.A.3
  • 47
    • 0030734503 scopus 로고    scopus 로고
    • HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del (10)(p13)
    • Hasegawa T, Hasegawa Y, Aso T, et al. HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13). Am J Med Genet. 1997; 73:416-418.
    • (1997) Am J Med Genet , vol.73 , pp. 416-418
    • Hasegawa, T.1    Hasegawa, Y.2    Aso, T.3
  • 48
    • 0033615563 scopus 로고    scopus 로고
    • Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome
    • Fujimoto S, Yokochi K, Morikawa H, et al. Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet. 1999;86:427-429.
    • (1999) Am J Med Genet , vol.86 , pp. 427-429
    • Fujimoto, S.1    Yokochi, K.2    Morikawa, H.3
  • 49
    • 81155161813 scopus 로고    scopus 로고
    • A new case of HDR syndrome with severe female genital tract malformation: Comment on "novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al
    • Moldovan O, Carvalho R, Jorge Z, Medeira A. A new case of HDR syndrome with severe female genital tract malformation: comment on "Novel mutation in the gene encoding the GATA3 transcription factor in a Spanish familial case of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome with female genital tract malformations" by Hernández et al. Am J Med Genet A. 2011;155A:2329-2330.
    • (2011) Am. J. Med. Genet. A. , vol.155 A , pp. 2329-2330
    • Moldovan, O.1    Carvalho, R.2    Jorge, Z.3    Medeira, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.