Literature DB >> 21399899

Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia.

Amar Al-Shibli1, Ibrahim Al Attrach, Patrick J Willems.   

Abstract

We report the case of a young Emirati boy with HDR (Hypoparathyroidism, sensorineural Deafness, and Renal hypoplasia) syndrome due to the novel heterozygous deletion of two nucleotides (c.35_36delGC ) in exon 2 of the GATA3 gene. The patient developed hypocalcemia and hypomagnesemia at 3 weeks of age with high fractional excretion of magnesium, indicating renal magnesium loss. This is the first published report of hypomagnesemia in association with HDR syndrome.

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Year:  2011        PMID： 21399899     DOI： 10.1007/s00467-011-1835-8

Source DB:  PubMed          Journal:  Pediatr Nephrol        ISSN： 0931-041X            Impact factor:   3.714


  24 in total

1.  GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

Authors:  K Muroya; T Hasegawa; Y Ito; T Nagai; H Isotani; Y Iwata; K Yamamoto; S Fujimoto; S Seishu; Y Fukushima; Y Hasegawa; T Ogata
Journal:  J Med Genet       Date:  2001-06       Impact factor: 6.318

2.  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.

Authors:  Alba M Hernández; Manuela Villamar; Lidia Roselló; Miguel A Moreno-Pelayo; Felipe Moreno; Ignacio Del Castillo
Journal:  Am J Med Genet A       Date:  2007-04-01       Impact factor: 2.802

Review 3.  Physiology of epithelial Ca2+ and Mg2+ transport.

Authors:  S F J van de Graaf; R J M Bindels; J G J Hoenderop
Journal:  Rev Physiol Biochem Pharmacol       Date:  2007       Impact factor: 5.545

4.  Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement.

Authors:  Martin Konrad; Andre Schaller; Dominik Seelow; Amit V Pandey; Siegfried Waldegger; Annegret Lesslauer; Helga Vitzthum; Yoshiro Suzuki; John M Luk; Christian Becker; Karl P Schlingmann; Marcel Schmid; Juan Rodriguez-Soriano; Gema Ariceta; Francisco Cano; Ricardo Enriquez; Harald Juppner; Sevcan A Bakkaloglu; Matthias A Hediger; Sabina Gallati; Stephan C F Neuhauss; Peter Nurnberg; Stefanie Weber
Journal:  Am J Hum Genet       Date:  2006-09-19       Impact factor: 11.025

5.  Autosomal recessive hypoparathyroidism with renal insufficiency and developmental delay.

Authors:  N J Shaw; D Haigh; G T Lealmann; G Karbani; J T Brocklebank; M J Dillon
Journal:  Arch Dis Child       Date:  1991-10       Impact factor: 3.791

6.  Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

Authors:  Alireza Zahirieh; M Andrew Nesbit; Asif Ali; Kairong Wang; Ning He; Maria Stangou; Gerasimos Bamichas; Kostas Sombolos; Rajesh V Thakker; York Pei
Journal:  J Clin Endocrinol Metab       Date:  2005-02-10       Impact factor: 5.958

Review 7.  Disorders of renal magnesium handling explain renal magnesium transport.

Authors:  Carsten A Wagner
Journal:  J Nephrol       Date:  2007 Sep-Oct       Impact factor: 3.902

8.  HDR syndrome (hypoparathyroidism, sensorineural deafness and renal disease) accompanied by renal tubular acidosis and endocrine abnormalities.

Authors:  Abdullah Taslipinar; Levent Kebapcilar; Mustafa Kutlu; Mustafa Sahin; Aydogan Aydogdu; Gokhan Uckaya; Omer Azal; Erol Bolu; Halil Ibrahim Aydin
Journal:  Intern Med       Date:  2008-06-02       Impact factor: 1.271

9.  Case of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome associated with nephrocalcinosis and distal renal tubular acidosis.

Authors:  Yuji Kato; Naoki Wada; Atsushi Numata; Hidehiro Kakizaki
Journal:  Int J Urol       Date:  2007-05       Impact factor: 3.369

10.  HDR syndrome: a novel "de novo" mutation in GATA3 gene.

Authors:  Silvio Ferraris; Angelo Giovanni Del Monaco; Emanuela Garelli; Adriana Carando; Barbara De Vito; Patrizia Pappi; Roberto Lala; Alberto Ponzone
Journal:  Am J Med Genet A       Date:  2009-02-15       Impact factor: 2.802
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  6 in total

1.  Vitamin D deficiency in a patient with HDR syndrome.

Authors:  Ifigenia Kostoglou-Athanassiou; Dimitrios Stefanopoulos; Areti Karfi; Panagiotis Athanassiou
Journal:  BMJ Case Rep       Date:  2015-07-08

2.  GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

Authors:  Zi-Yang Zhu; Qiao-Li Zhou; Shi-Ning Ni; Wei Gu
Journal:  World J Pediatr       Date:  2014-08-15       Impact factor: 2.764

3.  Renal phenotypic variability in HDR syndrome: glomerular nephropathy as a novel finding.

Authors:  Alexis Chenouard; Bertrand Isidor; Emma Allain-Launay; Anne Moreau; Marc Le Bideau; Gwenaelle Roussey
Journal:  Eur J Pediatr       Date:  2012-10-05       Impact factor: 3.183

4.  The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

Authors:  Chong Kun Cheon; Gu Hwan Kim; Han Wook Yoo
Journal:  Yonsei Med J       Date:  2015-01       Impact factor: 2.759

5.  Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Authors:  Li Wang; Qiong-Fen Lin; Hong-Yang Wang; Jing Guan; Lan Lan; Lin-Yi Xie; Lan Yu; Ju Yang; Cui Zhao; Jin-Long Liang; Han-Lin Zhou; Huan-Ming Yang; Wen-Ping Xiong; Qiu-Jing Zhang; Da-Yong Wang; Qiu-Ju Wang
Journal:  Chin Med J (Engl)       Date:  2017-03-20       Impact factor: 2.628

6.  A Novel De Novo GATA Binding Protein 3 Mutation in a Turkish Boy with Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome.

Authors:  Gül Yeşiltepe Mutlu; Heves Kırmızıbekmez; Akie Nakamura; Maki Fukami; Şükrü Hatun
Journal:  J Clin Res Pediatr Endocrinol       Date:  2015-12
  6 in total

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