Document Detail


A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.
MedLine Citation:
PMID:  23047743     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant syndrome characterized by frequent bone fractures at a young age, bowing of tubular bones and cemento-osseus lesions of the jawbones. Anoctamin 5 (ANO5) belongs to the anoctamin protein family that includes calcium-activated chloride channels. However, recent data together with our own experiments reported here add weight to the hypothesis that ANO5 may not function as calcium-activated chloride channel. By sequencing the entire ANO5 gene coding region and untranslated regions in a large Italian GDD family, we found a novel missense mutation causing the p.Thr513Ile substitution. The mutation segregates with the disease in the family and has never been described in any database as a polymorphism. To date, only two mutations on the same cysteine residue at position 356 of ANO5 amino-acid sequence have been described in GDD families. As ANO5 has also been found to be mutated in two different forms of muscular dystrophy, the finding of this third mutation in GDD adds clues to the role of ANO5 in these disorders.
Authors:
Caterina Marconi; Paolo Brunamonti Binello; Giovanni Badiali; Emanuela Caci; Roberto Cusano; Joseph Garibaldi; Tommaso Pippucci; Alberto Merlini; Claudio Marchetti; Kerry J Rhoden; Luis J V Galietta; Faustina Lalatta; Paolo Balbi; Marco Seri
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2012-10-10
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-05-16     Completed Date:  2013-10-21     Revised Date:  2014-06-03    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  613-9     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Aged
Amino Acid Sequence
Anions / metabolism
Base Sequence
Biological Transport
Calcium / metabolism
Chloride Channels / chemistry,  genetics*
Family
Female
HEK293 Cells
Humans
Italy
Male
Molecular Sequence Data
Mutation, Missense / genetics*
Osteogenesis Imperfecta / genetics*,  radiography
Pedigree*
Phenotype
Sequence Alignment
Chemical
Reg. No./Substance:
0/ANO5 protein, human; 0/Anions; 0/Chloride Channels; SY7Q814VUP/Calcium
Comments/Corrections

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


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