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

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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 in Paediatrics
Volume48
Issue number1
DOIs
Publication statusPublished - 1997 Jan 1
Externally publishedYes

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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    Kinoshita, E. I., 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 in Paediatrics, 48(1), 29-34. https://doi.org/10.1159/000185364