title: Two novel DAX1 gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.
abstract: 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.
authors.affiliation: Department of Endocrinology, The Second Affiliated Hospital of Wenzhou Medical College, Wenzhou 325027, Zhejiang, China. wuchaoming2004@126.com
authors.forename: C M
authors.initials: CM
authors.lastname: Wu
authors.forename: H B
authors.initials: HB
authors.lastname: Zhang
authors.forename: Q
authors.initials: Q
authors.lastname: Zhou
authors.forename: L
authors.initials: L
authors.lastname: Wan
authors.forename: J
authors.initials: J
authors.lastname: Jin
authors.forename: L
authors.initials: L
authors.lastname: Ni
authors.forename: Y J
authors.initials: YJ
authors.lastname: Pan
authors.forename: X Y
authors.initials: XY
authors.lastname: Wu
authors.forename: L Y
authors.initials: LY
authors.lastname: Ruan
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D000309:Adrenal Insufficiency; D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D057137:DAX-1 Orphan Nuclear Receptor / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005820:Genetic Testing; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D007006:Hypogonadism / Q000151:congenital / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree
chemical_list: D057137:DAX-1 Orphan Nuclear Receptor; C539965:NR0B1 protein, human