본문 바로가기
KERD
논문KCI 등재

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a GATA3 mutation

최우혁|양승|황일태|Yong Suk Shim
대한소아내분비학회 (Korean Society Of Pediatric Endocrinology)|2015.03|Annals of Pediatric Endocrinology & Metabolism|제20권 제1호|pp. 59-63

1

조회

0

다운로드

0

인용

0

참고문헌

키워드

Sensorineural hearing lossHypoparathyroidismGATA3Renal dysgenesis
주제분류소아과학

초록

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

Abstract

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15. We identified a patient diagnosed with hypoparathyroidism who also had a family history of hypoparathyroidism and sensorineural deafness, present in the father. The patient was subsequently diagnosed and found to be a heterozygote for an insertion mutation c.255_256ins4 (GTGC) in exon 2 of GATA3. His father was also confirmed to have the same mutation in GATA3.

참고문헌 (20)

  1. Barakat AY, "Familial nephrosis, nerve deafness, and hypoparathyroidism", J Pediatr, 91, pp.61~64 (1997)
  2. Hasegawa T, "HDR syndrome (hypoparathyroidism, sensorineural deafness, renal dysplasia) associated with del(10)(p13)", Am J Med Genet, 73, pp.416~418 (1997)
  3. Van Esch H, "GATA3 haplo-insufficiency causes human HDR syndrome", Nature, 406, pp.419~422 (2000)
  4. Muroya K, "GATA3 abnormalities and the phenotypic spectrum of HDR syndrome", J Med Genet, 38, pp.374~380 (2001)
  5. Bilous RW, "Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia", N Engl J Med, 327, pp.1069~1074 (1992)
  6. Labastie MC, "Structure and expression of the human GATA3gene", Genomics, 21, pp.1~6 (1995)
  7. Yang Z, "Human GATA-3 trans-activation, DNAbinding, and nuclear localization activities are organized into distinct structural domains", Mol Cell Biol, 14, pp.2201~2212 (1994)
  8. Pandolfi PP, "Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis", Nat Genet, 11, pp.40~44 (1995)
  9. Patient RK, "The GATA family (vertebrates and invertebrates)", Curr Opin Genet Dev, 12, pp.416~422 (2002)
  10. Debacker C, "Embryonic expression of the human GATA-3 gene", Mech Dev, 85, pp.183~187 (1999)
  11. Lieuw KH, "Temporal and spatial control of murine GATA-3 transcription by promoter-proximal regulatory elements", Dev Biol, 188, pp.1~16 (1997)
  12. Hernandez AM, "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, 143A, pp.757~762 (2007)
  13. Chiu WY, "Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population", J Clin Endocrinol Metab, 91, pp.4587~4592 (2006)
  14. Van Looij MA, "Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome", Audiol Neurootol, 11, pp.373~379 (2006)
  15. Kato Y, "Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis", Int J Urol, 14, pp.440~442 (2007)
  16. Maleki N, "Seizure, deafness, and renal failure: a case of barakat syndrome", Case Rep Nephrol, 2013, pp.261907~ (2013)
  17. Verri A, "Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications", Ann Genet, 47, pp.281~287 (2004)
  18. Mino Y, "Identification of a novel insertion mutation in GATA3 with HDR syndrome", Clin Exp Nephrol, 9, pp.58~61 (2005)
  19. Adachi M, "A novel mutation in GATA3 gene in a family with HDR syndrome(hypoparathyroidism, sensorineural deafness and renal anomaly syndrome)", J Pediatr Endrocrinol Metab, 19, pp.87~92 (2006)
  20. Aksoylar S, "HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome presenting with hypocalcemia-induced generalized psoriasis", J Clin Endocrinol Metab, 17, pp.1031~1034 (2004)

관련 논문AI추천

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation김구환, 유한욱, 전종근연세대학교의과대학 · Yonsei Medical Journal2015 · 제56권 제1호De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism고철우, 김진섭, 문정은, 박숙현, 이수정, 진동규대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2018 · 제23권 제2호A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe)위갑인, Ko Cheol Woo, Moon Jung Eun, ParK Suk-Hyun, Yang Hee-Young대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2021 · 제26권 제1호A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman김부경, 손영배, 이민정, 이승경, 이효진, 정윤석대한골대사학회 · 대한골대사학회지2013 · 제20권 제1호Deciphering the mystery of CHNG3Satoshi Narumi대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제5호Non-Homologous End Joining Repair Mechanism-Mediated Deletion of CHD7 Gene in a Patient with Typical CHARGE Syndrome박성섭, 박현웅, 서수현, 성문우, 이승준, 이정애, 조성임, 채종희대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제1호

이 간행물의 다른 논문 (9건)

Clinical and molecular review of atypical congenital adrenal hyperplasiaTaninee Sahakitrungruangpp. 1-7Pubertal growth and epiphyseal fusion심계식pp. 8-12Regression and progression of microalbuminuria in adolescents with childhood onset diabetes mellitusHa Young Yoo, Mi Kyung Son, 김교순, 곽병옥, 채현욱, 정소정, 김호성, 박혜원, 김덕희pp. 13-20Clinical usefulness of the measurement of serum fructosamine in childhood diabetes mellitus박지연, 김재경, 강동수, 유지숙pp. 21-26Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experienceYeonah Sul, 김재현, 유한욱, 최진호, Ja Hye Kim, Ja Hyang Cho, Gu Hwan Kim, Sun-Jeong Shinpp. 27-33
원문 보기