Document Detail


Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
MedLine Citation:
PMID:  8741909     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. During our routine genotyping of affected individuals and their relatives using allele-specific oligonucleotide hybridization and single-strand conformational polymorphism analysis, we identified two families each segregating three mutations. In both families, a mutation known to be associated with 21-hydroxylase deficiency was identified in healthy individuals but was not detected in the propositus. The propositus in family 1 was shown to be a homozygous carrier for G at nucleotide 655, which alters the splice acceptor site at exon 3. The propositus in family 2 carried the same splicing mutation on the maternal allele and a gene deletion/conversion on the paternal allele. In both families, other clinically unaffected relatives carried the Q318X mutation in exon 8. If molecular diagnostic studies had been limited to the mutation carried by the propositi, relatives would have been misinformed regarding their status as carriers or mildly affected individuals. The findings in these two families emphasize the high frequency of alleles causing 21-hydroxylase deficiency in the population.
Authors:
S S Witchel; P A Lee; M Trucco
Related Documents :
11161839 - In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxyl...
12552079 - Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new ...
14513879 - Steroid 21-hydroxylase (p450c21) naturally occurring mutants i172n, v281l and i236n/v23...
2569949 - Haplotype analysis of the phenylalanine hydroxylase gene in turkish phenylketonuria fam...
15887869 - 21-hydroxylase deficiency: from molecular genetics to clinical presentation.
7766959 - Mutations in the phenylalanine hydroxylase gene: genetic determinants for the phenotypi...
23135609 - Mitochondrial trna(phe) mutation as a cause of end-stage renal disease in childhood.
343109 - Quantitative forward mutation assay in salmonella typhimurium using 8-azaguanine resist...
15054399 - A novel point mutation in the mitochondrial trna(trp) gene produces a neurogastrointest...
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  American journal of medical genetics     Volume:  61     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1996 Jan 
Date Detail:
Created Date:  1996-10-09     Completed Date:  1996-10-09     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2-9     Citation Subset:  IM    
Affiliation:
Division of Endocrinology, University of Pittsburgh School of Medicine, PA 15213, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Adrenal Hyperplasia, Congenital* / enzymology,  genetics*
Alleles
Alternative Splicing
Base Sequence
Child
DNA Primers
Exons
Female
Haplotypes
Heterozygote Detection*
Homozygote
Humans
Infant, Newborn
Male
Molecular Sequence Data
Pedigree
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational*
Steroid 21-Hydroxylase / genetics*
Grant Support
ID/Acronym/Agency:
HD00965-01A1/HD/NICHD NIH HHS; RR-00084/RR/NCRR NIH HHS
Chemical
Reg. No./Substance:
0/DNA Primers; EC 1.14.99.10/Steroid 21-Hydroxylase

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


Previous Document:  Hepatic hydrothorax. Diagnosis and management.
Next Document:  Segregation of a paternal insertional translocation results in partial 4q monosomy or 4q trisomy in ...