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

Research output: Contribution to journal › Article › peer-review

16 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	29-34
Number of pages	6
Journal	Hormone Research in Paediatrics
Volume	48
Issue number	1
DOIs	https://doi.org/10.1159/000185364
Publication status	Published - 1997 Jan 1
Externally published	Yes

Keywords

Adrenal hypoplasia congenital
DAX 1
Hypogonadotropic hypogonadism

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Endocrinology

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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.

Research output: Contribution to journal › Article › peer-review

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

Abstract

Keywords

ASJC Scopus subject areas

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