Characterization of two novel homozygous missense mutations involving codon 6 and 259 of type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene causing, respectively, nonsalt-wasting and salt-wasting 3βHSD deficiency disorder

Journal of Clinical Endocrinology and Metabolism

Volumn 85, Issue 4, 2000, Pages 1678-1685

  Zhang, Li ^a   Mason, J Ian ^d   Naiki, Yasuhiro ^a   Copeland, Kenneth C ^b   Castro Magana, Mariano ^c   Gordon Walker, Timothy T ^f   Chang, Ying T ^a   Pang, Songya ^a,e  

^a UNIVERSITY OF ILLINOIS   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c WINTHROP UNIVERSITY HOSPITAL   (United States)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; CHORIONIC GONADOTROPIN; COMPLEMENTARY DNA; FLUDROCORTISONE ACETATE; HYDROCORTISONE; MESSENGER RNA; MUTANT PROTEIN; PREGNENOLONE; PROGESTERONE;

ANIMAL CELL; ARTICLE; CASE REPORT; CODON; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; HUMAN; INFANT; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM; SALT LOSING NEPHRITIS; SITE DIRECTED MUTAGENESIS;

3-HYDROXYSTEROID DEHYDROGENASES; AMINO ACID SEQUENCE; BLOTTING, NORTHERN; BLOTTING, WESTERN; CODON; CONSANGUINITY; EXONS; FEMALE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; ISOENZYMES; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; PSEUDOHERMAPHRODITISM; TRANSFECTION;

ANIMALIA; MICROPHALLUS;

EID: 0034456841     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.85.4.1678     Document Type: Article

References (29)

1. 5-Δ4-isomerase in human adrenals and gonads
2. 4→5 isomerase
3. Assignment of the human 3β-hydroxysteroid dehydrogenase gene (HSDB3) to the p13 band of the chromosome 1
4. Congenital adrenal hyperplasia due to point mutations in the type II 3β-hydroxysteroid dehydrogenase gene
5. Mutations in the type II 3β-hydroxysteroid dehydrogenase gene in a patient with classic salt-wasting 3β-hydroxysteroid dehydrogenase deficiency congenital adrenal hyperplasia
6. Molecular basis of congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
7. Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3β-hydroxysteroid dehydrogenase deficiency
8. A new compound heterozygous frameshift mutation in the type II. 3β-hydroxysteroid dehydrogenase (3βHSD) gene causes salt-wasting 3βHSD deficiency congenital adrenal hyperplasia
9. The adrenogenital syndrome with deficiency of 3β-hydroxysteroid dehydrogenase
10. The molecular and clinical spectrum of 3β-hydroxysteroid dehydrogenase deficiency disorder
11. Serum androgen concentrations in neonates and young infants with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
12. Plasma levels of aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, cortisol, and cortisone during infancy and childhood
13. Normative data for adrenal steroidogenesis in a healthy pediatric population: Age and sex-related changes after adrenocorticotropin stimulation
14. 5-steroid levels
15. Dihydrotestosterone, and its relationship to testosterone in infancy and childhood
16. Normal, and elevated 3α-androstanediol glucuronide concentrations in women with various causes of hirsutism and its correlation with degree of hirsutism and androgen levels
17. 5-Δ4 isomerase (3βHSD) gene: Adrenal and gonadal specificity
18. Evidence of a steroidogenic enzyme gene dose effect on adrenal gene expression in hereditary rabbit congenital adrenal hyperplasia
19. StAR protein is expressed in both medulla, and cortex of the bovine and rat adrenal gland
20. Structure-function relationships and molecular genetics of the 3β-hydroxysteroid dehydrogenase gene family
21. Identification and characterization of the G15D mutation found in a male patient with 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency: Alteration of the putative NAD-binding domain of the type II 3βHSD
22. Congenital adrenal hyperplasia caused by a novel homozygous frameshift mutation 273ΔAA in type II 3β-hydroxysteroid dehydrogenase (HSD 3β2) in three male patients of Afghan/Pakistani origin
23. Functional characterization of the novel L1994 108W and P186L mutations detected in the type II 3β-hydroxysteroid dehydrogenase gene of a male pseudohermaphrodite with congenital adrenal hyperplasia
24. A novel missense mutation in the type II 3β-hydroxysteroid dehydrogenase gene in a family with classical salt-wasting congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency
25. Evidence of a novel mechanism revolved in 3β-hydroxysteroid dehydrogenase deficiency
26. 5-steroid dehydrogenase
27. Molecular analysis of type II 3β-hydroxysteroid dehydrogenase gene in Japanese patients with classical 3β-hydroxysteroid dehydrogenase deficiency
28. Detection, and functional characterization of the novel missense mutation Y254D in type II 3β-hydroxysteroid dehydrogenase (3βHSD) gene of a female patient with non salt-losing 3βHSD deficiency
29. 5-Δ4 isomerase: Characterization of three additional related genes