title: Mutation of 3β-hydroxysteroid dehydrogenase (3β-HSD) at the 3'-untranslated             region is associated with adrenocortical insufficiency.
abstract: In the present study, we report the mutation of the 3β-hydroxysteroid dehydrogenase             (3β-HSD) gene in a family suffering from adrenocortical insufficiency. The index             patient was clinically diagnosed with adrenocortical insufficiency. Peripheral             venous blood (5 ml) was collected from the proband and 5 members of his family,             and genomic DNA was extracted. Exons 1, 2, 3 and 4 of the 3β-HSD gene and their             flanking sequences were amplified by polymerase chain reaction (PCR). Some of             the family members were examined by amplifying only exon 4. The PCR products were             then purified and sequenced. The C to T homozygous mutation at nucleotide 1088             and C to G homozygous mutation at nucleotide 1132 within exon 4 of the 3β-HSD             gene were found in the family members with abnormal phenotype. In the family members             with normal phenotype, heterozygous mutations at the sites mentioned above were             identified in the parents and Aunt 1, but not in Aunt 2 of the proband. In conclusion,             a family with 3β-HSD deficiency was identified in the present study. The cause             of the disease in the studied family appears to be two novel homozygous mutations             in the 3β-HSD gene.
authors.affiliation: Department of Endocrinology, Kunshan People's Hospital Affiliated                     to Jiangsu University, Kunshan, Jiangsu 215300, P.R. China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Pan
authors.forename: Shao
authors.initials: S
authors.lastname: Zhong
authors.forename: Ren-Ming
authors.initials: RM
authors.lastname: Hu
authors.forename: Wei
authors.initials: W
authors.lastname: Gong
mesh_terms: D020413:3' Untranslated Regions; D000224:Addison Disease / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D005091:Exons; D005820:Genetic Testing; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011375:Progesterone Reductase / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014057:Tomography, X-Ray Computed
chemical_list: D020413:3' Untranslated Regions; C533068:3 beta-hydroxysteroid dehydrogenase type II; D011375:Progesterone Reductase