A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

被引：3

作者：

Kusakawa, Moe ^{[1
,2
]}

Sato, Takeshi ^{[2
]}

Hosoda, Ai ^{[1
]}

Araki, Eriko ^{[1
]}

Matsuzaki, Yohei ^{[1
]}

Yamashita, Yukio ^{[1
]}

Ishihara, Jun ^{[1
]}

Inagaki, Yoshinori ^{[3
]}

Uchida, Noboru ^{[2
]}

Ishii, Tomohiro ^{[2
]}

Hasegawa, Tomonobu ^{[2
]}

机构：

[1] Yokohama Municipal Citizens Hosp, Dept Pediat, Hodogaya Ku, 56 Okazawa Cho, Yokohama, Kanagawa, Japan

[2] Keio Univ, Sch Med, Dept Pediat, Shinjuku Ku, 35 Shinanomachi, Tokyo, Japan

[3] Kanagawa Childrens Med Ctr, Dept Neonatol, Minami Ku, 2-138-4 Mutsukawa, Yokohama, Kanagawa, Japan

来源：

HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期

关键词：

ARCH;

D O I：

10.1038/s41439-019-0087-1

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the GATA3 gene. A vascular ring has not been reported in patients with GATA3-associated HDR syndrome. We report a neonatal case of HDR syndrome and a vascular ring that were possibly due to a novel frameshift mutation in the GATA3 gene.

引用

页数：2

共 50 条

[31] A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes
Goodwin, Gregory
Hawley, Pamela P.
Miller, David T.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2016, 101 (03): : 837 - 840
[32] Characterization of GATA3 mutations in the hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome
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
JOURNAL OF BIOLOGICAL CHEMISTRY, 2004, 279 (21) : 22624 - 22634
[33] Unusual Proliferative Glomerulonephritis in a Patient Diagnosed to Have Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome with a Novel Mutation in the GATA3 Gene
Kamezaki, Michitsugu
Kusaba, Tetsuro
Adachi, Takaomi
Yamashita, Noriyuki
Nakata, Mayumi
Ota, Noriyoshi
Shiotsu, Yayoi
Ishida, Mami
Usui, Takeshi
Tamagaki, Keiichi
INTERNAL MEDICINE, 2017, 56 (11) : 1393 - 1397
[34] Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome
Nakamura, Akie
Fujiwara, Fumie
Hasegawa, Yukihiro
Ishizu, Katsura
Mabe, Akiyo
Nakagawa, Hiroyasu
Nagasaki, Keisuke
Jo, Wakako
Tajima, Toshihiro
ENDOCRINE JOURNAL, 2011, 58 (02) : 123 - 130
[35] 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
Hernandez, Alba M.
Villamar, Manuela
Rosello, Lidia
Moreno-Pelayo, Miguel A.
Moreno, Felipe
del Castillo, Ignacio
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2007, 143A (07) : 757 - 762
[36] A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
Huang, Bo
Li, Shiwei
Chai, Yun
Fan, Yu
Li, Xin
Liu, Yue
Fu, Yunhong
Song, Xixi
Cui, Jingqiu
MOLECULAR GENETICS AND METABOLISM REPORTS, 2024, 38
[37] Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome
Zahirieh, A
Nesbit, MA
Ali, A
Wang, KR
He, N
Stangou, M
Bamichas, G
Sombolos, K
Thakker, RV
Pei, Y
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2005, 90 (04): : 2445 - 2450
[38] Human Genome and Diseases: Review¶Transcription factor GATA3 and the human HDR syndrome
H. Van Esch
K. Devriendt
Cellular and Molecular Life Sciences CMLS, 2001, 58 : 1296 - 1300
[39] HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication
Bernardini, L.
Sinibaldi, L.
Capalbo, A.
Bottillo, I.
Mancuso, B.
Torres, B.
Novelli, A.
Digilio, M. C.
Dallapiccola, B.
CLINICAL GENETICS, 2009, 76 (01) : 117 - 119
[40] GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome
Zhu, Zi-Yang
Zhou, Qiao-Li
Ni, Shi-Ning
Gu, Wei
WORLD JOURNAL OF PEDIATRICS, 2014, 10 (03) : 278 - 280

← 1 2 3 4 5 →