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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.

SUBMITTER: Kusakawa M 

PROVIDER: S-EPMC6928020 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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A neonatal case of HDR syndrome and a vascular ring with a novel <i>GATA3</i> mutation.

Kusakawa Moe M   Sato Takeshi T   Hosoda Ai A   Araki Eriko E   Matsuzaki Yohei Y   Yamashita Yukio Y   Ishihara Jun J   Inagaki Yoshinori Y   Uchida Noboru N   Ishii Tomohiro T   Hasegawa Tomonobu T  

Human genome variation 20191223

HDR syndrome (OMIM #146255) is caused by haploinsufficiency of the <i>GATA3</i> gene. A vascular ring has not been reported in patients with <i>GATA3</i>-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 <i>GATA3</i> gene. ...[more]

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