Document Detail


Novel mutations in two families with Darier's disease.
MedLine Citation:
PMID:  17214724     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
BACKGROUND: Darier's disease (DD) is an autosomal dominant skin disorder characterized by abnormal keratinization and acantholysis. Deleterious mutations in the gene ATP2A2 which encodes SERCA2, a calcium pump of the sarco/endoplasmic reticulum underlie the disease. OBJECTIVE: To identify the genetic defect in two Jewish families of eastern-European ancestry with DD. METHODS: DNA was extracted from peripheral blood of six patients and three healthy members of the two families. Polymerase chain reaction (PCR) was carried out to amplify the exons and flanking intron boundaries of the ATP2A2 gene followed by direct sequencing. Restriction fragment analysis verified the presence or absence of the mutations. Results Two novel mutations were identified. A nonsense mutation, a change of C391 to T (R131X) in exon 5, was found in one family and a missense mutation, a change of A530 to C (Q177P) in the second. The mutations were not present in 50 healthy individuals of the same ethnic origin. Both pathogenic mutations are in codons that are located in a highly conserved cytoplasmic beta-strand domain which functions as the transduction site. CONCLUSION: The existence of two mutations in two Jewish families of the same ancestry might confirm the previously published reports that most mutations in that gene are private.
Authors:
B Amichai; M Karpati; B Goldman; L Peleg
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  International journal of dermatology     Volume:  46     ISSN:  0011-9059     ISO Abbreviation:  Int. J. Dermatol.     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-11     Completed Date:  2007-04-20     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0243704     Medline TA:  Int J Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  64-7     Citation Subset:  IM    
Affiliation:
Department of Dermatology, Huzot Clinic of Clalit Health Services, Ashkelon, Israel. boazam@clalit.org.il
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MeSH Terms
Descriptor/Qualifier:
Adult
Codon, Nonsense
Darier Disease / ethnology,  genetics*
Female
Humans
Infant
Jews / genetics*
Male
Mutation, Missense
Pedigree
Polymerase Chain Reaction
Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics*
Chemical
Reg. No./Substance:
0/Codon, Nonsense; EC 3.6.3.8/Sarcoplasmic Reticulum Calcium-Transporting ATPases

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


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