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Article: Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

TitleMutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients
Authors
Issue Date2008
PublisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Citation
Human Mutation, 2008, v. 29 n. 10, p. 1237-1246 How to Cite?
AbstractOral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This rare genetic disorder is due to mutations in the OFD1 gene that encodes a centrosome/basal body protein necessary for primary cilium assembly and for left-right axis determination, thus ascribing OFDI to the growing number of disorders associated to ciliary dysfunction. We now report a mutation analysis study in a cohort of 100 unrelated affected individuals collected worldwide. Putative disease-causing mutations were identified in 81 patients (81%). We describe 67 different mutations, 64 of which represent novel mutations, including 36 frameshift, nine missense, 11 splice-site, and 11 nonsense mutations. Most of them concentrate in exons 3, 8, 9, 12, 13, and 16, suggesting that these exons may represent mutational hotspots. Phenotypic characterization of the patients provided a better definition of the clinical features of OFDI syndrome. Our results indicate that renal cystic disease is present in 60% of cases >18 years of age. Genotype-phenotype correlation did not reveal significant associations apart for the high-arched/cleft palate most frequently associated to missense and splice-site mutations. Our results contribute to further expand our knowledge on the molecular basis of OFDI syndrome. © 2008 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/170406
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorPrattichizzo, Cen_US
dc.contributor.authorMacca, Men_US
dc.contributor.authorNovelli, Ven_US
dc.contributor.authorGiorgio, Gen_US
dc.contributor.authorBarra, Aen_US
dc.contributor.authorFranco, Ben_US
dc.contributor.authorAbdulla, Fen_US
dc.contributor.authorAbramowicz, Men_US
dc.contributor.authorAmy, Sen_US
dc.contributor.authorSchafer, Ien_US
dc.contributor.authorBankier, Aen_US
dc.contributor.authorWhite, Sen_US
dc.contributor.authorBarcina, MGen_US
dc.contributor.authorBartoshesky, LEen_US
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dc.contributor.authorBeemer, FAen_US
dc.contributor.authorBenke, Pen_US
dc.contributor.authorBetz, RCen_US
dc.contributor.authorBianchini, Gen_US
dc.contributor.authorGaravelli, Len_US
dc.contributor.authorBigoni, Sen_US
dc.contributor.authorBird, Len_US
dc.contributor.authorChibuk, Jen_US
dc.contributor.authorMasserFrye, Den_US
dc.contributor.authorBrunetti, Nen_US
dc.contributor.authorScarcella, Aen_US
dc.contributor.authorBrunner, HGen_US
dc.contributor.authorBurn, Jen_US
dc.contributor.authorCarmi, Ren_US
dc.contributor.authorCastellan, Cen_US
dc.contributor.authorCastelluccio, Pen_US
dc.contributor.authorCastle, Ben_US
dc.contributor.authorChiong, MAen_US
dc.contributor.authorCutiongco, EMen_US
dc.contributor.authorCollins, Fen_US
dc.contributor.authorCouchon, Een_US
dc.contributor.authorCurry, Aen_US
dc.contributor.authorPastore, Men_US
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dc.contributor.authorTreisman, Ten_US
dc.contributor.authorDean, Jen_US
dc.contributor.authorDevriendt, Ken_US
dc.contributor.authorMatthijs, Gen_US
dc.contributor.authorDunlap, JWen_US
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dc.contributor.authorElcioglu, Nen_US
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dc.contributor.authorFerrero, GBen_US
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dc.contributor.authorGal, Aen_US
dc.contributor.authorOrth, Uen_US
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dc.contributor.authorGerola, Oen_US
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dc.contributor.authorGiuliano, Fen_US
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dc.contributor.authorGödde, Een_US
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dc.contributor.authorHomfray, Ten_US
dc.contributor.authorTaylor, Ren_US
dc.contributor.authorIwarsson, Een_US
dc.contributor.authorJensen, Pen_US
dc.contributor.authorJezelaStanek, Aen_US
dc.contributor.authorJoss, Sen_US
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dc.contributor.authorKeeling, SLen_US
dc.contributor.authorKlatt, Ren_US
dc.contributor.authorTeebi, Aen_US
dc.contributor.authorKlehrMartinelli, Men_US
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dc.contributor.authorLees, Men_US
dc.contributor.authorLoughlin, Sen_US
dc.contributor.authorLhotta, Ken_US
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dc.contributor.authorRaymond, FLen_US
dc.contributor.authorReich, Een_US
dc.contributor.authorReimschisel, Ten_US
dc.contributor.authorRobertson, Jen_US
dc.contributor.authorRoggenbuck, Jen_US
dc.contributor.authorSabato, Aen_US
dc.contributor.authorSanchez Del Pozo, Jen_US
dc.contributor.authorSchellApacik, Cen_US
dc.contributor.authorSchwaab, Een_US
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dc.contributor.authorToprak, Oen_US
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dc.date.accessioned2012-10-30T06:08:12Z-
dc.date.available2012-10-30T06:08:12Z-
dc.date.issued2008en_US
dc.identifier.citationHuman Mutation, 2008, v. 29 n. 10, p. 1237-1246en_US
dc.identifier.issn1059-7794en_US
dc.identifier.urihttp://hdl.handle.net/10722/170406-
dc.description.abstractOral-facial-digital type I (OFDI) syndrome is a male-lethal X-linked dominant developmental disorder belonging to the heterogeneous group of oral-facial-digital syndromes (OFDS). OFDI is characterized by malformations of the face, oral cavity, and digits. Central nervous system (CNS) abnormalities and cystic kidney disease can also be part of this condition. This rare genetic disorder is due to mutations in the OFD1 gene that encodes a centrosome/basal body protein necessary for primary cilium assembly and for left-right axis determination, thus ascribing OFDI to the growing number of disorders associated to ciliary dysfunction. We now report a mutation analysis study in a cohort of 100 unrelated affected individuals collected worldwide. Putative disease-causing mutations were identified in 81 patients (81%). We describe 67 different mutations, 64 of which represent novel mutations, including 36 frameshift, nine missense, 11 splice-site, and 11 nonsense mutations. Most of them concentrate in exons 3, 8, 9, 12, 13, and 16, suggesting that these exons may represent mutational hotspots. Phenotypic characterization of the patients provided a better definition of the clinical features of OFDI syndrome. Our results indicate that renal cystic disease is present in 60% of cases >18 years of age. Genotype-phenotype correlation did not reveal significant associations apart for the high-arched/cleft palate most frequently associated to missense and splice-site mutations. Our results contribute to further expand our knowledge on the molecular basis of OFDI syndrome. © 2008 Wiley-Liss, Inc.en_US
dc.languageengen_US
dc.publisherJohn Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515en_US
dc.relation.ispartofHuman Mutationen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAmino Acid Sequenceen_US
dc.subject.meshChilden_US
dc.subject.meshCohort Studiesen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMutationen_US
dc.subject.meshOrofaciodigital Syndromes - Genetics - Pathologyen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshProteins - Geneticsen_US
dc.subject.meshSequence Alignmenten_US
dc.titleMutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patientsen_US
dc.typeArticleen_US
dc.identifier.emailTan, T:tanty@hku.hken_US
dc.identifier.authorityTan, T=rp01380en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/humu.20792en_US
dc.identifier.pmid18546297-
dc.identifier.scopuseid_2-s2.0-55349129995en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-55349129995&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume29en_US
dc.identifier.issue10en_US
dc.identifier.spage1237en_US
dc.identifier.epage1246en_US
dc.identifier.isiWOS:000260212500009-
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