Novel deletion mutations of the DAX1 (NR0B1) gene in two Taiwanese families with X-linked adrenal hypoplasia congenita
Journal
Journal of Pediatric Endocrinology and Metabolism
Journal Volume
18
Journal Issue
10
Pages
991-997
Date Issued
2005
Author(s)
Abstract
Objective: To analyze the DAX1 (NR0B1) gene in Taiwanese families with adrenal hypoplasia congenita. Patients and methods: Two unrelated Taiwanese patients were followed up at our pediatric endocrine clinic. Both patients presented with adrenal crisis. One patient entered puberty spontaneously. However, arrest of puberty was noted in the following years and hypogonadotropic hypogonadism was confirmed by GnRH test. The other patient was still prepubertal. Sequencing of the DAX1 (NR0B1) gene was carried out in both patients and their respective family members. Results: Two different novel mutations were identified. The first patient had one base (G) deletion at nucleotide 159, resulting in a frameshift and a premature stop codon at position 84. The other patient had one base (G) deletion at nucleotide 831, leading to a frameshift and a premature stop codon at position 371. Family studies revealed that their mothers and sisters were heterozygotes for the mutations while their maternal grandmothers did not carry the mutations. Conclusions: Two Taiwanese patients with adrenal hypoplasia congenita were detected to have novel mutations of the DAX1 (NR0B1) gene. Family studies suggested that such mutations resulted from de novo mutation of the DAX1 (NR0B1) gene in their mothers. These data indicate that molecular analysis of the DAX1 (NR0B1) gene is important for the diagnosis and genetic counseling of children with primary adrenal insufficiency. ? Freund Publishing House Ltd., London.
Subjects
Adrenal hypoplasia congenita; DAX1 (NR0B1) gene
SDGs
Other Subjects
cortisone acetate; fludrocortisone; gonadorelin; hydrocortisone; nuclear receptor DAX 1; testosterone; tetracosactide; adrenal disease; adrenal insufficiency; adult; article; case report; clinical feature; delayed puberty; diagnostic value; follow up; frameshift mutation; gene deletion; gene location; gene mutation; gene sequence; genetic analysis; genetic counseling; genetic risk; genetic screening; genetic susceptibility; gonadorelin test; heterozygote; hormone substitution; human; hydrocortisone blood level; hypogonadotropic hypogonadism; male; pedigree analysis; prepuberty; school child; stop codon; Taiwan; X chromosome linked disorder; X linked adrenal hypoplasia congenita
Publisher
Freund Publishing House Ltd
Type
journal article