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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

Access to Document

10.1159/000185364

Cite this

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.

@article{0b81833fc612468d977dde74f79e6122,

title = "DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism",

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.",

keywords = "Adrenal hypoplasia congenital, DAX 1, Hypogonadotropic hypogonadism",

author = "Kinoshita, {Ei Ichi} and Masaaki Yoshimoto and Katsuaki Motomura and Tomoko Kawaguchi and Ryogo Mori and Tsuneyoshi Baba and Kahoru Nishijo and Tomonobu Hasegawa and Toru Momoi and Tom Yorihuji",

year = "1997",

month = jan,

day = "1",

doi = "10.1159/000185364",

language = "English",

volume = "48",

pages = "29--34",

journal = "Steroids and lipids research",

issn = "1663-2818",

publisher = "S. Karger AG",

number = "1",

}

TY - JOUR

T1 - DAX 1 Gene mutations and deletions in japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism

AU - Kinoshita, Ei Ichi

AU - Yoshimoto, Masaaki

AU - Motomura, Katsuaki

AU - Kawaguchi, Tomoko

AU - Mori, Ryogo

AU - Baba, Tsuneyoshi

AU - Nishijo, Kahoru

AU - Hasegawa, Tomonobu

AU - Momoi, Toru

AU - Yorihuji, Tom

PY - 1997/1/1

Y1 - 1997/1/1

N2 - 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.

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.

KW - Adrenal hypoplasia congenital

KW - DAX 1

KW - Hypogonadotropic hypogonadism

UR - http://www.scopus.com/inward/record.url?scp=0030912572&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030912572&partnerID=8YFLogxK

U2 - 10.1159/000185364

DO - 10.1159/000185364

M3 - Article

C2 - 9195207

AN - SCOPUS:0030912572

VL - 48

SP - 29

EP - 34

JO - Steroids and lipids research

JF - Steroids and lipids research

SN - 1663-2818

IS - 1

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

Access to Document

Other files and links

Fingerprint

Cite this