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.

• Authors: E Kinoshita, M Yoshimoto, K Motomura, T Kawaguchi, R Mori, T Baba, K Nishijo, T Hasegawa, T Momoi, T Yorihuji
• Journal: Hormone research (Horm Res) Vol. 48 Issue 1 Pg. 29-34 ( 1997) ISSN: 0301-0163 [Print] Switzerland
• PMID: 9195207 (Publication Type: Case Reports, Journal Article)

Chemical References

• DAX-1 Orphan Nuclear Receptor
• DNA-Binding Proteins
• NR0B1 protein, human
• Receptors, Retinoic Acid
• Repressor Proteins
• Transcription Factors
• DNA
• Glycerol Kinase

Topics

• Adolescent
• Adrenal Insufficiency (congenital, genetics)
• Adult
• Base Sequence
• DAX-1 Orphan Nuclear Receptor
• DNA (chemistry)
• DNA-Binding Proteins (genetics)
• Gene Deletion
• Glycerol Kinase (deficiency)
• Humans
• Hypogonadism (genetics)
• Japan
• Male
• Molecular Sequence Data
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Polymorphism, Single-Stranded Conformational
• Receptors, Retinoic Acid (genetics)
• Repressor Proteins
• Transcription Factors (genetics)