DAX1

Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China

L. Chen, Ding, X. P., Wei, X., and Li, L. X., Investigation of mutations in the SRY, SOX9, and DAX1 genes in sex reversal patients from the Sichuan region of China, vol. 13, pp. 1518-1526, 2014.

We investigated the molecular genetic mechanism of sex reversal by exploring the relationship between mutations in the sex-determining genes SRY, SOX9, and DAX1 with genetic sex reversal disease. Mutations in the three key genes were detected by polymerase chain reaction (PCR) and sequencing after karyotype analysis. The mutations detected were then aligned with a random sample of 100 normal sequences and the NCBI sequence database in order to confirm any new mutations.

A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita

L. E. P. Calliari, Longui, C. A., Rocha, M. N., Faria, C. D. C., Kochi, C., Melo, M. R., Melo, M. B., and Monte, O., A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita, vol. 6, pp. 277-283, 2007.

Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptomatic during infancy. Molecular analysis was able to detect a novel mutation in exon 1 of the DAX1 gene, consisting of a transition of C to T at position 359, determining a stop codon at position 359 (Q359X).

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