Document Detail

A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.
MedLine Citation:
PMID:  22861124     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Inherited isolated nail anomaly manifesting with onychauxis and onycholysis is a rare condition, caused by mutations in the gene FZD6, encoding membrane-bound Wnt receptor protein.
OBJECTIVES: To search for sequence variants in the gene FZD6 in three individuals of a consanguineous family exhibiting features of nail dysplasia.
METHODS: Linkage in the family was searched by genotyping microsatellite markers linked to the gene FZD6, mapped at chromosome 8q22.3. Exons and splice junction sites of the gene FZD6 were polymerase chain reaction amplified and sequenced in an automated DNA sequencer.
RESULTS: DNA sequence analysis revealed a novel homozygous missense mutation (c.1266G>A; p.Gly422Asp) located in the transmembrane domain of the protein FZD6.
CONCLUSIONS: The missense mutation (p.Gly422Asp), identified here, is only the third mutation detected in the gene FZD6.
S I Raza; N Muhammad; S Khan; W Ahmad
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-10-05
Journal Detail:
Title:  The British journal of dermatology     Volume:  168     ISSN:  1365-2133     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-31     Completed Date:  2013-07-18     Revised Date:  2013-08-23    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  422-5     Citation Subset:  IM    
Copyright Information:
© 2012 The Authors. BJD © 2012 British Association of Dermatologists.
Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
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MeSH Terms
Chromosomes, Human, Pair 8 / genetics
Frizzled Receptors / genetics*
Microsatellite Repeats
Mutation, Missense / genetics*
Nails, Malformed / genetics*
Young Adult
Reg. No./Substance:
0/FZD6 protein, human; 0/Frizzled Receptors

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