DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Ei Ichi Kinoshita; Masaaki Yoshimoto; Katsuaki Motomura; Tomoko Kawaguchi; Ryogo Mori; Tsuneyoshi Baba; Kahoru Nishijo; Tomonobu Hasegawa; Toru Momoi; Tom Yorihuji

doi:10.1159/000185364

DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Ei Ichi Kinoshita, Masaaki Yoshimoto, Katsuaki Motomura, Tomoko Kawaguchi, Ryogo Mori, Tsuneyoshi Baba, Kahoru Nishijo, Tomonobu Hasegawa, Toru Momoi, Tom Yorihuji

研究成果: Article › 査読

16 被引用数 (Scopus)

抄録

Abnormality of the DAX-1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. A double-point mutation for V126M and W171X was identified in 1 family and a complex de novo insertion-deletion mutation was identified in a second. The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency.

本文言語	English
ページ（範囲）	29-34
ページ数	6
ジャーナル	Hormone Research in Paediatrics
巻	48
号	1
DOI	https://doi.org/10.1159/000185364
出版ステータス	Published - 1997 1月 1
外部発表	はい

ASJC Scopus subject areas

小児科学、周産期医学および子どもの健康
内分泌学、糖尿病および代謝内科学
内分泌学

UN SDG

この成果は、次の持続可能な開発目標に貢献しています

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10.1159/000185364

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DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. / Kinoshita, Ei Ichi; Yoshimoto, Masaaki; Motomura, Katsuaki; Kawaguchi, Tomoko; Mori, Ryogo; Baba, Tsuneyoshi; Nishijo, Kahoru; Hasegawa, Tomonobu; Momoi, Toru; Yorihuji, Tom.

In: Hormone Research in Paediatrics, Vol. 48, No. 1, 01.01.1997, p. 29-34.

研究成果: Article › 査読

Kinoshita, Ei Ichi ; Yoshimoto, Masaaki ; Motomura, Katsuaki ; Kawaguchi, Tomoko ; Mori, Ryogo ; Baba, Tsuneyoshi ; Nishijo, Kahoru ; Hasegawa, Tomonobu ; Momoi, Toru ; Yorihuji, Tom. / DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. In: Hormone Research in Paediatrics. 1997 ; Vol. 48, No. 1. pp. 29-34.

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AU - Kawaguchi, Tomoko

AU - Mori, Ryogo

AU - Baba, Tsuneyoshi

AU - Nishijo, Kahoru

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AB - Abnormality of the DAX-1 gene accounts for many instances of congenital adrenal hypoplasia. In the present study, we performed molecular genetic analysis of DAX-1 in 4 unrelated Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. A double-point mutation for V126M and W171X was identified in 1 family and a complex de novo insertion-deletion mutation was identified in a second. The DAX-1 gene was entirely deleted in a 3rd patient as well as in a 4th with the additional feature of glycerol kinase deficiency.

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DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

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ASJC Scopus subject areas

UN SDG

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