Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome

被引：8

作者：

Chen, Liu ^{[1
]}

Chen, Bing ^{[1
]}

Leng, Wuilin ^{[1
]}

Lui, Xiaotian ^{[1
]}

Wu, Qinan ^{[1
]}

Ouyang, Xinshou ^{[2
]}

Liang, Ziwen ^{[1
]}

机构：

[1] Third Mil Med Univ, Affiliated Hosp 1, Dept Endocrinol, Chongqing, Peoples R China

[2] Yale Univ, Sch Med, Dept Internal Med, Sect Digest Dis, New Haven, CT 06510 USA

来源：

JOURNAL OF INTERNATIONAL MEDICAL RESEARCH | 2015年 / 43卷 / 05期

基金：

中国国家自然科学基金;

关键词：

HDR syndrome; GATA3; phenotypic spectrum; mutation analysis; RENAL DYSPLASIA HDR; SENSORINEURAL DEAFNESS; HYPOPARATHYROIDISM; GATA3; PHENOTYPES;

D O I：

10.1177/0300060515591065

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

We describe the case of a 21-year-old male with hypocalcaemia, hyperphosphataemia, recurrent limb twitch, deafness, proteinuria, increased serum creatinine and urea nitrogen levels, and shrinkage of both kidneys. Brain computed tomography showed intracranial calcifications. The patient was diagnosed with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome. DNA sequence analysis of the GATA3 gene showed a novel de novo mutation, c. 529dupC (p. Arg177profs*126), in exon 2, resulting in a frameshift mutation with a premature stop codon after a new 126 amino acid sequence. We provide further evidence that HDR syndrome is caused by haploinsufficiency of GATA3.

引用

页码：718 / 724

页数：7

共 50 条

[1] HDR Syndrome: A Novel "de novo" Mutation in GATA3 Gene
Ferraris, Silvio
Del Monaco, Angelo Giovanni
Garelli, Emanuela
Carando, Adriana
De Vito, Barbara
Pappi, Patrizia
Lala, Roberto
Ponzone, Alberto
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) : 770 - 775
[2] Identification of a novel insertion mutation in GATA3 with HDR syndrome
Mino Y.
Kuwahara T.
Mannami T.
Shioji K.
Ono K.
Iwai N.
Clinical and Experimental Nephrology, 2005, 9 (1) : 58 - 61
[3] A Novel Mutation in GATA3 Gene in HDR Syndrome
Kim, Dooman
Yang, Seoung
Park, Jun
Son, Ho Young
ENDOCRINE REVIEWS, 2014, 35 (03)
[4] Intracranial Calcification in a Patient with HDR Syndrome and a GATA3 Mutation
Hayashi, Yuichi
Suwa, Tetsuya
Inuzuka, Takashi
INTERNAL MEDICINE, 2013, 52 (01) : 161 - 162
[5] A Novel Mutation in GATA3 in a Patient with Bakarat Syndrome
Maury, Kelly
Marino, Roxana
Brunetto, Oscar
Hidalgo, Lorena
Ramirez, Paul
HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 35 - 36
[6] A rare case of deafness and renal abnormalities in HDR syndrome caused by a de novo mutation in the GATA3 gene
Arrojo Martins, Fabio Tadeu
Ramos, Berenice Dias
Sartorato, Edi Lacia
GENETICS AND MOLECULAR BIOLOGY, 2018, 41 (04) : 794 - 798
[7] A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
Kusakawa, Moe
Sato, Takeshi
Hosoda, Ai
Araki, Eriko
Matsuzaki, Yohei
Yamashita, Yukio
Ishihara, Jun
Inagaki, Yoshinori
Uchida, Noboru
Ishii, Tomohiro
Hasegawa, Tomonobu
HUMAN GENOME VARIATION, 2019, 6 (1)
[8] A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation
Moe Kusakawa
Takeshi Sato
Ai Hosoda
Eriko Araki
Yohei Matsuzaki
Yukio Yamashita
Jun Ishihara
Yoshinori Inagaki
Noboru Uchida
Tomohiro Ishii
Tomonobu Hasegawa
Human Genome Variation, 6
[9] HDR syndrome due to a new mutation in the GATA3 gene
Donbaloglu, Zeynep
Cetin, Kursat
Coskun, Mert
Clark, Ozden Altiok
Aksoy, Gulsah Kaya
Parlak, Mesut
Tuhan, Hale
HORMONE RESEARCH IN PAEDIATRICS, 2024, 97 : 337 - 337
[10] Novel DNA mutation in the GATA3 gene in an Emirati boy with HDR syndrome and hypomagnesemia
Al-Shibli, Amar
Al Attrach, Ibrahim
Willems, Patrick J.
PEDIATRIC NEPHROLOGY, 2011, 26 (07) : 1167 - 1170

← 1 2 3 4 5 →