Document Detail


Molecular study of the 5 alpha-reductase type 2 gene in three European families with 5 alpha-reductase deficiency.
MedLine Citation:
PMID:  7608269     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The molecular basis of 5 alpha-reductase (5 alpha R) deficiency was investigated in four patients from three European families. In the French family, the first patient was raised as a female, and gonadectomy was performed before puberty. The second sibling, also raised as female, differed in that gonadal removal was performed after the onset of pubertal masculinization. The other two patients, both from Polish families, developed masculinization of external genitalia during puberty. All patients developed a female sexual identity. In all cases, no known consanguinity or family history of 5 alpha R deficiency was reported. The genomic DNAs of the patients were sequenced after polymerase chain reaction amplification of the five exons of the 5 alpha R type 2 gene. We found two homozygous mutations responsible for glutamine to arginine and histidine to arginine substitution in families 1 and 3, respectively. In family 2, we found a heterozygous mutation responsible for an asparagine to serine substitution at position 193. The glutamine/arginine 126 mutation in the French family was previously reported in a Creole ethnic group, and the Polish histidine/arginine 231 mutation was previously reported in a patient from Chicago. Moreover, all of the mutations created new restriction sites, which were used to determine the kindred carrier status in the three families. Because 5 alpha R deficiency is known to be a heterogenous disease in terms of clinical and biochemical expression, our data suggest that molecular biology analysis of the type 2 gene could be an essential step in diagnosing 5 alpha R deficiency.
Authors:
C Boudon; S Lumbroso; J M Lobaccaro; M Szarras-Czapnik; T E Romer; P Garandeau; P Montoya; C Sultan
Related Documents :
24202919 - Genetic analysis of agronomic characters in chickpea : i. estimates of genetic variance...
12121349 - Endothelial nitric oxide synthase gene polymorphisms in fabry's disease.
18804929 - A novel pomt2 mutation causes mild congenital muscular dystrophy with normal brain mri.
23997099 - Lqt2 nonsense mutations generate trafficking defective nh2-terminally truncated channel...
19515129 - Cluster headache and alpha 1-antitrypsin deficiency.
14629469 - Hypofibrinogenemia caused by a nonsense mutation in the fibrinogen bbeta chain gene.
21887269 - Stability in and correlation between factors influencing genetic quality of seed lots i...
20707729 - Frequency of prothrombotic risk factors in patients with deep venous thrombosis and con...
18717709 - Two novel aldh7a1 (antiquitin) splicing mutations associated with pyridoxine-dependent ...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  80     ISSN:  0021-972X     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  1995 Jul 
Date Detail:
Created Date:  1995-08-11     Completed Date:  1995-08-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2149-53     Citation Subset:  AIM; IM    
Affiliation:
Centre de Recherches de l'Institut National de la Santé et de la Recherche Médicale, INSERM, Montpellier, France.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adolescent
Amino Acid Sequence
Arginine
Asparagine
Base Sequence
Exons
Female
France
Glutamine
Histidine
Humans
Introns
Male
Molecular Sequence Data
Open Reading Frames
Point Mutation*
Poland / ethnology
Serine
Sex Differentiation Disorders / enzymology,  genetics*
Testosterone 5-alpha-Reductase / deficiency*,  genetics*
Chemical
Reg. No./Substance:
56-45-1/Serine; 56-85-9/Glutamine; 7006-34-0/Asparagine; 71-00-1/Histidine; 74-79-3/Arginine; EC 1.3.99.5/Testosterone 5-alpha-Reductase

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Increased nocturnal melatonin secretion in male patients with hypogonadotropic hypogonadism and dela...
Next Document:  Expression of exon 3-retaining and exon 3-excluding isoforms of the human growth hormone-receptor is...