• PMID: 21270512
• Gene Name: DAX1
• Condition: X-linked adrenal hypoplasia congenita
• Association: This study identifies 2 novel mutations in the DAX1 gene which can further expand the mutation database and benefit patients in the diagnosis and treatment of AHC.
• Mutation: DAX1 gene revealed 2 novel mutations c.572-575 dupGGGC, p.Thr193Gly,fs,205X and c.773- 774 dupCC, p.Ser259Pro,fs,264X in exon 1
• Population size: 2
• Population details: 2 X-linked adrenal hypoplasia congenita
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: X-linked adrenal hypoplasia congenita

Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis

Wu CM, Zhang HB, Zhou Q, Wan L, Jin J, Ni L, Pan YJ, Wu XY, Ruan LY.

Mutations in the DAX1 gene result in X-linked congenital adrenal hypoplasia (AHC). Affected boys usually present with primary adrenal failure in early infancy or childhood and hypogonadotropic hypogonadism (HH) at puberty. This paper describes the clinical, hormonal, radiological, and genetic characteristics of 2 Chinese patients with X-linked AHC. Primary adrenal insufficiency occurred in the 2 patients during their childhood and HH was recognized at puberty. Genomic DNA was extracted from their peripheral blood leukocytes and coding sequence abnormalities of the DAX1 gene were assessed by PCR and direct sequencing analysis. Genetic analysis of the DAX1 gene revealed 2 novel mutations c.572-575 dupGGGC, p.Thr193Gly,fs,205X and c.773- 774 dupCC, p.Ser259Pro,fs,264X in exon 1, causing frameshifts and yeilding premature stop codons at 205 and 264, respectively. This study identifies 2 novel mutations in the DAX1 gene which can further expand the mutation database and benefit patients in the diagnosis and treatment of AHC. FAU - Wu, C M AU - Wu CM AD - Department of Endocrinology, The Second Affiliated Hospital of Wenzhou Medical College, Wenzhou 325027, Zhejiang, China. wuchaoming2004@126.com FAU - Zhang, H B AU - Zhang HB FAU - Zhou, Q AU - Zhou Q FAU - Wan, L AU - Wan L FAU - Jin, J AU - Jin J FAU - Ni, L AU - Ni L FAU - Pan, Y J AU - Pan YJ FAU - Wu, X Y AU - Wu XY