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Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia

Show simple item record Adaimy L. Chouery E. Megarbane H. Mroueh S. Delague V. Nicolas E. Belguith H. De Mazancourt P. Megarbane A.
dc.contributor.editor Oct-2007 2017-10-05T16:01:29Z 2017-10-05T16:01:29Z 2007
dc.identifier 10.1086/520064
dc.identifier.issn 00029297
dc.description.abstract Odonto-onycho-dermal dysplasia is a rare autosomal recessive syndrome in which the presenting phenotype is dry hair, severe hypodontia, smooth tongue with marked reduction of fungiform and filiform papillae, onychodysplasia, keratoderma and hyperhidrosis of palms and soles, and hyperkeratosis of the skin. We studied three consanguineous Lebanese Muslim Shiite families that included six individuals affected with odonto-onycho-dermal dysplasia. Using a homozygosity-mapping strategy, we assigned the disease locus to an ∼9-cM region at chromosome 2q35-q36.2, located between markers rs16853834 and D2S353, with a maximum multipoint LOD score of 5.7. Screening of candidate genes in this region led us to identify the same c.697G→T (p.Glu233X) homozygous nonsense mutation in exon 3 of the WNT10A gene in all patients. At the protein level, the mutation is predicted to result in a premature truncated protein of 232 aa instead of 417 aa. This is the first report to our knowledge of a human phenotype resulting from a mutation in WNT10A, and it is the first demonstration of an ectodermal dysplasia caused by an altered WNT signaling pathway, expanding the list of WNT-related diseases. © 2007 by The American Society of Human Genetics. All rights reserved.
dc.format.extent Pages: (821-828)
dc.language English
dc.publisher CHICAGO
dc.relation.ispartof Publication Name: American Journal of Human Genetics; Publication Year: 2007; Volume: 81; no. 4; Pages: (821-828);
dc.source Scopus
dc.subject.other GENBANK: NM_002191, NM_004438, NM_006522, NM_006736, NM_007127, NM_025216
dc.title Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: The odonto-onycho-dermal dysplasia
dc.type Article
dc.contributor.affiliation Adaimy, L., Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, France
dc.contributor.affiliation Chouery, E., Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, France
dc.contributor.affiliation Mégarbané, H., Service de Dermatologie, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Mroueh, S., Department of Pediatrics, American University of Beirut, Beirut, Lebanon
dc.contributor.affiliation Delague, V., INSERM U491, Génétique Médicale et Développement, Faculté de Médecine de la Timone, Marseille, France
dc.contributor.affiliation Nicolas, E., Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, France
dc.contributor.affiliation Belguith, H., Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, France
dc.contributor.affiliation De Mazancourt, P., Hôpital Raymond Poincaré, Université Versailles Saint Quentin en Yvelines EA 2493, Garches, France
dc.contributor.affiliation Mégarbané, A., Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph, France, Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph de Beyrouth, 42 rue de Grenelle, 75007 Paris, France
dc.contributor.authorAddress Mégarbané, A.; Unité de Génétique Médicale, Faculté de Médecine, Université Saint-Joseph de Beyrouth, 42 rue de Grenelle, 75007 Paris, France; email:
dc.contributor.authorCorporate University: American University of Beirut Medical Center; Faculty: Faculty of Medicine; Department: Pediatrics and Adolescent Medicine;
dc.contributor.authorDepartment Pediatrics and Adolescent Medicine
dc.contributor.authorFaculty Faculty of Medicine
dc.contributor.authorInitials Adaimy, L
dc.contributor.authorInitials Chouery, E
dc.contributor.authorInitials Megarbane, H
dc.contributor.authorInitials Mroueh, S
dc.contributor.authorInitials Delague, V
dc.contributor.authorInitials Nicolas, E
dc.contributor.authorInitials Belguith, H
dc.contributor.authorInitials de Mazancourt, P
dc.contributor.authorInitials Megarbane, A
dc.contributor.authorReprintAddress Megarbane, A (reprint author), Univ St Joseph Beyrouth, Fac Med, Unite Genet Med, 42 Rue Grenelle, F-75007 Paris, France.
dc.contributor.authorUniversity American University of Beirut Medical Center
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dc.description.citedCount 79
dc.description.citedTotWOSCount 75
dc.description.citedWOSCount 73
dc.format.extentCount 8
dc.identifier.coden AJHGA
dc.identifier.pubmedID 17847007
dc.identifier.scopusID 35348987509
dc.publisher.address 1427 E 60TH ST, CHICAGO, IL 60637-2954 USA
dc.relation.ispartOfISOAbbr Am. J. Hum. Genet.
dc.relation.ispartOfIssue 4
dc.relation.ispartofPubTitle American Journal of Human Genetics
dc.relation.ispartofPubTitleAbbr Am. J. Hum. Genet.
dc.relation.ispartOfVolume 81
dc.source.ID WOS:000249307600023
dc.type.publication Journal
dc.subject.otherChemCAS Codon, Nonsense
dc.subject.otherChemCAS DNA, 9007-49-2
dc.subject.otherChemCAS WNT10A protein, human
dc.subject.otherChemCAS Wnt Proteins
dc.subject.otherIndex Wnt protein
dc.subject.otherIndex article
dc.subject.otherIndex autosomal recessive disorder
dc.subject.otherIndex chromosome 2q
dc.subject.otherIndex clinical article
dc.subject.otherIndex consanguinity
dc.subject.otherIndex controlled study
dc.subject.otherIndex ectodermal dysplasia
dc.subject.otherIndex exon
dc.subject.otherIndex female
dc.subject.otherIndex gene
dc.subject.otherIndex gene location
dc.subject.otherIndex gene mapping
dc.subject.otherIndex genetic screening
dc.subject.otherIndex homozygosity
dc.subject.otherIndex human
dc.subject.otherIndex male
dc.subject.otherIndex nonsense mutation
dc.subject.otherIndex nucleotide sequence
dc.subject.otherIndex odontoonychodermal dysplasia
dc.subject.otherIndex priority journal
dc.subject.otherIndex wnt10a gene
dc.subject.otherIndex Amino Acid Sequence
dc.subject.otherIndex Base Sequence
dc.subject.otherIndex Child, Preschool
dc.subject.otherIndex Codon, Nonsense
dc.subject.otherIndex Consanguinity
dc.subject.otherIndex DNA
dc.subject.otherIndex Ectodermal Dysplasia
dc.subject.otherIndex Female
dc.subject.otherIndex Genes, Recessive
dc.subject.otherIndex Humans
dc.subject.otherIndex Lebanon
dc.subject.otherIndex Male
dc.subject.otherIndex Middle Aged
dc.subject.otherIndex Nails, Malformed
dc.subject.otherIndex Odontodysplasia
dc.subject.otherIndex Pedigree
dc.subject.otherIndex Syndrome
dc.subject.otherIndex Tongue
dc.subject.otherIndex Wnt Proteins
dc.subject.otherIndex Soleidae
dc.subject.otherKeywordPlus LEBANESE FAMILY
dc.subject.otherKeywordPlus TOOTH
dc.subject.otherKeywordPlus GENE
dc.subject.otherKeywordPlus CLASSIFICATION
dc.subject.otherKeywordPlus EXPRESSION
dc.subject.otherKeywordPlus TARGET
dc.subject.otherKeywordPlus CANCER
dc.subject.otherKeywordPlus MAP
dc.subject.otherWOS Genetics and Heredity

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