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

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Article number55
JournalHuman Genome Variation
Volume6
Issue number1
DOIs
Publication statusPublished - 2019 Dec 1

Fingerprint

Blood Vessels
Genes
Mutation
Genetic Databases
Haploinsufficiency
Frameshift Mutation
Barakat syndrome

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics

Cite this

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.

In: Human Genome Variation, Vol. 6, No. 1, 55, 01.12.2019.

Research output: Contribution to journalArticle

Kusakawa, M, Sato, T, Hosoda, A, Araki, E, Matsuzaki, Y, Yamashita, Y, Ishihara, J, Inagaki, Y, Uchida, N, Ishii, T & Hasegawa, T 2019, 'A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation', Human Genome Variation, vol. 6, no. 1, 55. https://doi.org/10.1038/s41439-019-0087-1
Kusakawa, Moe ; Sato, Takeshi ; Hosoda, Ai ; Araki, Eriko ; Matsuzaki, Yohei ; Yamashita, Yukio ; Ishihara, Jun ; Inagaki, Yoshinori ; Uchida, Noboru ; Ishii, Tomohiro ; Hasegawa, Tomonobu. / A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation. In: Human Genome Variation. 2019 ; Vol. 6, No. 1.
@article{14fc0da9af6743ecbc10580d32ad49a9,
title = "A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation",
abstract = "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.",
author = "Moe Kusakawa and Takeshi Sato and Ai Hosoda and Eriko Araki and Yohei Matsuzaki and Yukio Yamashita and Jun Ishihara and Yoshinori Inagaki and Noboru Uchida and Tomohiro Ishii and Tomonobu Hasegawa",
year = "2019",
month = "12",
day = "1",
doi = "10.1038/s41439-019-0087-1",
language = "English",
volume = "6",
journal = "Human Genome Variation",
issn = "2054-345X",
publisher = "Nature Publishing Group",
number = "1",

}

TY - JOUR

T1 - A neonatal case of HDR syndrome and a vascular ring with a novel GATA3 mutation

AU - Kusakawa, Moe

AU - Sato, Takeshi

AU - Hosoda, Ai

AU - Araki, Eriko

AU - Matsuzaki, Yohei

AU - Yamashita, Yukio

AU - Ishihara, Jun

AU - Inagaki, Yoshinori

AU - Uchida, Noboru

AU - Ishii, Tomohiro

AU - Hasegawa, Tomonobu

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85077025465&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85077025465&partnerID=8YFLogxK

U2 - 10.1038/s41439-019-0087-1

DO - 10.1038/s41439-019-0087-1

M3 - Article

AN - SCOPUS:85077025465

VL - 6

JO - Human Genome Variation

JF - Human Genome Variation

SN - 2054-345X

IS - 1

M1 - 55

ER -