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, Tom Momoi, Torn Yorihuji

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)29-34
Number of pages6
JournalHormone Research
Volume48
Issue number1
Publication statusPublished - 1997 Jul
Externally publishedYes

Fingerprint

Hypogonadism
Gene Deletion
INDEL Mutation
Mutation
Point Mutation
Genes
Molecular Biology
X-linked adrenal hypoplasia congenita
Hyperglycerolemia

Keywords

  • Adrenal hypoplasia congenita
  • DAX-1
  • Hypogonadotropic hypogonadism

ASJC Scopus subject areas

  • Endocrinology

Cite this

Kinoshita, E. I., Yoshimoto, M., Motomura, K., Kawaguchi, T., Mori, R., Baba, T., ... Yorihuji, T. (1997). DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Hormone Research, 48(1), 29-34.

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, Tom; Yorihuji, Torn.

In: Hormone Research, Vol. 48, No. 1, 07.1997, p. 29-34.

Research output: Contribution to journalArticle

Kinoshita, EI, Yoshimoto, M, Motomura, K, Kawaguchi, T, Mori, R, Baba, T, Nishijo, K, Hasegawa, T, Momoi, T & Yorihuji, T 1997, 'DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism', Hormone Research, vol. 48, no. 1, pp. 29-34.
Kinoshita EI, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T et al. DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. Hormone Research. 1997 Jul;48(1):29-34.
Kinoshita, Ei Ichi ; Yoshimoto, Masaaki ; Motomura, Katsuaki ; Kawaguchi, Tomoko ; Mori, Ryogo ; Baba, Tsuneyoshi ; Nishijo, Kahoru ; Hasegawa, Tomonobu ; Momoi, Tom ; Yorihuji, Torn. / DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism. In: Hormone Research. 1997 ; Vol. 48, No. 1. pp. 29-34.
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