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
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.
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页数:2
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