Document Detail

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency.
MedLine Citation:
PMID:  8741909     Owner:  NLM     Status:  MEDLINE    
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.
S S Witchel; P A Lee; M Trucco
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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    
Division of Endocrinology, University of Pittsburgh School of Medicine, PA 15213, USA.
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MeSH Terms
Adrenal Hyperplasia, Congenital* / enzymology,  genetics*
Alternative Splicing
Base Sequence
DNA Primers
Heterozygote Detection*
Infant, Newborn
Molecular Sequence Data
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational*
Steroid 21-Hydroxylase / genetics*
Grant Support
Reg. No./Substance:
0/DNA Primers; EC 21-Hydroxylase

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

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