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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

2007; Wiley; Volume: 143A; Issue: 7 Linguagem: Inglês

10.1002/ajmg.a.31617

ISSN

1552-4833

Autores

Alba Hernández, Manuela Villamar, Lidia Roselló, Miguel A. Moreno‐Pelayo, Felipe Moreno, Ignacio del Castillo,

Tópico(s)

Renal and related cancers

Resumo

American Journal of Medical Genetics Part AVolume 143A, Issue 7 p. 757-762 Research Letter 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†‡ Alba M. Hernández, Alba M. Hernández Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorManuela Villamar, Manuela Villamar Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorLidia Roselló, Lidia Roselló Centro RV Alfa, Madrid, SpainSearch for more papers by this authorMiguel A. Moreno-Pelayo, Miguel A. Moreno-Pelayo Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorFelipe Moreno, Felipe Moreno Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorIgnacio del Castillo, Corresponding Author Ignacio del Castillo [email protected] Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainUnidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, km 9, 28034 Madrid, Spain.Search for more papers by this author Alba M. Hernández, Alba M. Hernández Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorManuela Villamar, Manuela Villamar Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorLidia Roselló, Lidia Roselló Centro RV Alfa, Madrid, SpainSearch for more papers by this authorMiguel A. Moreno-Pelayo, Miguel A. Moreno-Pelayo Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorFelipe Moreno, Felipe Moreno Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainSearch for more papers by this authorIgnacio del Castillo, Corresponding Author Ignacio del Castillo [email protected] Unidad de Genética Molecular, Hospital Ramón y Cajal, Madrid, SpainUnidad de Genética Molecular, Hospital Ramón y Cajal, Carretera de Colmenar, km 9, 28034 Madrid, Spain.Search for more papers by this author First published: 16 February 2007 https://doi.org/10.1002/ajmg.a.31617Citations: 33 † How to cite this article: Hernández AM, Villamar M, Roselló L, Moreno-Pelayo MA, Moreno F, del Castillo I. 2007. 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 Part A 143A:757–762. ‡ Alba M. Hernández and Manuela Villamar contributed equally to this work. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat REFERENCES Adachi M, Tachibana K, Asakura Y, Tsuchiya T. 2006. A novel mutation in the GATA3 gene in a family with HDR syndrome (hypoparathyroidism, sensorineural deafness and renal anomaly syndrome). J Pediatr Endocrinol Metab 19: 87–92. Barakat AY, D'Albora JB, Martin MM, Jose PA. 1977. Familial nephrosis, nerve deafness, and hypoparathyroidism. J Pediatr 91: 61–64. Bilous RW, Murty G, Parkinson DB, Thakker RV, Coulthard MG, Burn J, Mathias D, Kendall-Taylor P. 1992. Autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia. N Engl J Med 327: 1069–1074. Daw SCM, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler PJ. 1996. A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet 13: 458–460. Debacker C, Catala M, Labastie MC. 1999. Embryonic expression of the human GATA-3 gene. Mech Dev 85: 183–187. den Dunnen JT, Antonarakis SE. 2005. Recommendations for the description of sequence variants. http://www.hgvs.org/mutnomen/recs.html. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380: 152–154. Fedele L, Bianchi S, Agnoli B, Tozzi L, Vignali M. 1996. Urinary tract anomalies associated with unicornuate uterus. J Urol 155: 847–848. Fujimoto S, Yokochi K, Morikawa H, Nakano M, Shibata H, Togari H, Wada Y. 1999. Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome. Am J Med Genet 86: 427–429. George KM, Leonard MW, Roth ME, Lieuw KH, Kioussis D, Grosveld F, Engel JD. 1994. Embryonic expression and cloning of the murine GATA-3 gene. Development 120: 2673–2686. Karis A, Pata I, Van Doorninck JH, Grosveld F, De Zeeuw CI, De Caprona D, Fritzsch B. 2001. Transcription factor GATA-3 alters pathway selection of olivocochlear neurons and affects morphogenesis of the ear. J Comp Neurol 429: 615–630. Labastie MC, Bories D, Chabret C, Gregoire JM, Chretien S, Romeo PH. 1994. Structure and expression of the human GATA3 gene. Genomics 21: 1–6. Labastie MC, Catala M, Gregoire JM, Peault B. 1995. The GATA-3 gene is expressed during human kidney embryogenesis. Kidney Int 47: 1597–1603. Li S, Qayyum A, Coakley FV, Hricak H. 2000. Association of renal agenesis and mullerian duct anomalies. J Comput Assist Tomogr 24: 829–834. Lichtner P, Konig R, Hasegawa T, Van Esch H, Meitinger T, Schuffenhauer S. 2000. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. J Med Genet 37: 33–37. Lieuw KH, Li GL, Zhou Y, Grosveld F, Engel JD. 1997. Temporal and spatial control of murine GATA-3 transcription by promoter-proximal regulatory elements. Dev Biol 188: 1–16. Mino Y, Kuwahara T, Mannami T, Shioji K, Ono K, Iwai N. 2005. Identification of a novel insertion mutation in GATA3 with HDR syndrome. Clin Exp Nephrol 9: 58–61. Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T. 2001. GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet 38: 374–380. Nesbit MA, Bowl MR, Harding B, Ali A, Ayala A, Crowe C, Dobbie A, Hampson G, Holdaway I, Levine MA, McWilliams R, Rigden S, Sampson J, Williams AJ, Thakker RV. 2004. Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome. J Biol Chem 279: 22624–22634. Pandolfi PP, Roth ME, Karis A, Leonard MW, Dzierzak E, Grosveld FG, Engel JD, Lindenbaum MH. 1995. Targeted disruption of the GATA3 gene causes severe abnormalities in the nervous system and in fetal liver haematopoiesis. Nat Genet 11: 40–44. Patient RK, McGhee JD. 2002. The GATA family (vertebrates and invertebrates). Curr Opin Genet Dev 12: 416–422. Rivolta MN, Holley MC. 1998. GATA3 is downregulated during hair cell differentiation in the mouse cochlea. J Neurocytol 27: 637–647. van der Wees J, van Looij MA, de Ruiter MM, Elias H, van der Burg H, Liem SS, Kurek D, Engel JD, Karis A, van Zanten BG, de Zeeuw CI, Grosveld FG, van Doorninck JH. 2004. Hearing loss following Gata3 haploinsufficiency is caused by cochlear disorder. Neurobiol Dis 16: 169–178. Van Esch H, Devriendt K. 2001. Transcription factor GATA3 and the human HDR syndrome. Cell Mol Life Sci 58: 1296–1300. Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. 2000. GATA3 haplo-insufficiency causes human HDR syndrome. Nature 406: 419–422. Verri A, Maraschio P, Devriendt K, Uggetti C, Spadoni E, Haeusler E, Federico A. 2004. Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet 47: 281–287. Yang Z, Gu L, Romeo PH, Bories D, Motohashi H, Yamamoto M, Engel JD. 1994. Human GATA-3 trans-activation, DNA-binding, and nuclear localization activities are organized into distinct structural domains. Mol Cell Biol 14: 2201–2212. Zahirieh A, Nesbit MA, Ali A, Wang K, He N, Stangou M, Bamichas G, Sombolos K, Thakker RV, Pei Y. 2005. Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome. J Clin Endocrinol Metab 90: 2445–2450. Citing Literature Volume143A, Issue71 April 2007Pages 757-762 ReferencesRelatedInformation

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