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

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.

Kusakawa, Moe; Sato, Takeshi; Hosoda, Ai; Araki, Eriko; Matsuzaki, Yohei; Yamashita, Yukio; Ishihara, Jun; Inagaki, Yoshinori; Uchida, Noboru; Ishii, Tomohiro; Hasegawa, Tomonobu.

Afiliação

Kusakawa M; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Sato T; 2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.
Hosoda A; 2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.
Araki E; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Matsuzaki Y; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Yamashita Y; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Ishihara J; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Inagaki Y; 1Department of Pediatrics, Yokohama Municipal Citizen's Hospital, 56 Okazawa-cho, Hodogaya-ku, Yokohama, Kanagawa Japan.
Uchida N; 3Department of Neonatology, Kanagawa Children's Medical Center, 2-138-4 Mutsukawa, Minami-ku, Yokohama, Kanagawa Japan.
Ishii T; 2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.
Hasegawa T; 2Department of Pediatrics, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo Japan.

Hum Genome Var ; 6: 55, 2019.

Article em En | MEDLINE | ID: mdl-31885872

RESUMO

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.

Palavras-chave

Congenital heart defects; Mutation; Parathyroid diseases

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2019 Tipo de documento: Article País de publicação: Reino Unido

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