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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

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Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family

dc.contributor.author	Solia-Nasser, Luciano	es
dc.contributor.author	Aquino, Sibele Nascimento de	es
dc.contributor.author	Paranaíba, Lívia M. R.	es
dc.contributor.author	Gomes, Andreia	es
dc.contributor.author	Santos Neto, Pedro Eleutério dos	es
dc.contributor.author	Della Coletta, Ricardo	es
dc.contributor.author	Cardoso, Aline-Francoise	es
dc.contributor.author	Frota, Ana-Cláudia	es
dc.contributor.author	Martelli Júnior, Hercílio	es
dc.date.accessioned	2016-07-26T11:58:25Z
dc.date.available	2016-07-26T11:58:25Z
dc.date.issued	2016	es
dc.identifier.citation	Solia-Nasser, Luciano ; Aquino, Sibele Nascimento de ; Paranaíba, Lívia M. R. ; Gomes, Andreia ; Santos Neto, Pedro Eleutério dos ; Della Coletta, Ricardo ; Cardoso, Aline-Francoise ; Frota, Ana-Cláudia ; Martelli Júnior, Hercílio. Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2016, Vol. 21, No. 3: 321-	es
dc.identifier.uri	http://hdl.handle.net/10550/54775
dc.description.abstract	Background: The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. Material and Methods: To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. Results: The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. Conclusions: These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. Clinical relevance: This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1	en_US
dc.relation		es
dc.subject	Odontología	es
dc.subject	Ciencias de la salud	es
dc.title	Waardenburg syndrome type I: dental phenotypes and genetic analysis of an extended family	es
dc.type	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.type.hasVersion	VoR	es_ES