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  • Title: DAX-1 gene mutations and deletions in Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
    Author: Kinoshita E, Yoshimoto M, Motomura K, Kawaguchi T, Mori R, Baba T, Nishijo K, Hasegawa T, Momoi T, Yorihuji T.
    Journal: Horm Res; 1997; 48(1):29-34. PubMed ID: 9195207.
    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.
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