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Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

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Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus

dc.contributor.author	Kurklu, Esma	es
dc.contributor.author	Öztürk, Sükrü	es
dc.contributor.author	Cassidy, Andrew J.	es
dc.contributor.author	Ak, Gulsum	es
dc.contributor.author	Koray, Meltem	es
dc.contributor.author	Çefle, Kivanç	es
dc.contributor.author	Palandüz, Sükrü	es
dc.contributor.author	Güllüo?lu, Mine G.	es
dc.contributor.author	Tanyeri, Hakký	es
dc.contributor.author	McLean, William-Henry-Irwin	es
dc.date.accessioned	2018-05-23T08:27:54Z
dc.date.available	2018-05-23T08:27:54Z
dc.date.issued	2018	es
dc.identifier.citation	Kurklu, Esma ; Öztürk, ?ükrü ; Cassidy, Andrew J. ; Ak, Gulsum ; Koray, Meltem ; Çefle, K?vanç ; Palandüz, ?ükrü ; Güllüo?lu, Mine G ; Tanyeri, Hakký ; McLean, William-Henry-Irwin. Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus. En: Medicina oral, patología oral y cirugía bucal. Ed. inglesa, 23 2 2018: 5-	es
dc.identifier.uri	http://hdl.handle.net/10550/66303
dc.description.abstract	Oral white sponge nevus (WSN) is a rare autosomal dominant benign condition, characterized by asymptomatic spongy white plaques. Mutations in Keratin 4 (KRT4) and 13 (KRT13) have been shown to cause WSN. Familial cases are uncommon due to irregular penetrance. Thus, the aim of the study was: a) to demonstrate the clinical and histopathological features of a three-generation Turkish family with oral WSN b) to determine whether KRT4 or KRT13 gene mutation was the molecular basis of WSN. Out of twenty members of the family ten were available for assessment. Venous blood samples from six affected and five unaffected members and 48 healthy controls were obtained for genetic mutational analysis. Polymerase chain reaction was used to amplify all exons within KRT4 and KRT13 genes. These products were sequenced and the data was examined for mutations and polymorphisms. Varying presentation and severity of clinical features were observed. Analysis of the KRT13 gene revealed the sequence variant Y118D as the disease-causing mutation. One patient revealed several previously unreported polymorphisms including a novel mutation in exon 1 of the KRT13 gene and a heterozygous deletion in exon 1 of KRT4. This deletion in the KRT4 gene was found to be a common polymorphism reflecting a high allele frequency of 31.25% in the Turkish population. Oral WSN may manifest variable clinical features. The novel mutation found in the KRT13 gene is believed to add evidence for a mutational hotspot in the mucosal keratins. Molecular genetic analysis is required to establish correct diagnosis and appropriate genetic consultation.	es
dc.title	Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus	es
dc.type	journal article	es_ES
dc.subject.unesco	UNESCO::CIENCIAS MÉDICAS	es
dc.identifier.doi	10.4317/medoral.21437	es
dc.type.hasVersion	VoR	es_ES