Treacher collins syndrome with a novel deletion in the tcof1 gene

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dc.contributor.authorCavdartepe, Busra Eser
dc.contributor.authorKocak, Nadir
dc.contributor.authorYasa, Nafiz
dc.contributor.authorCora, Tulin
dc.date.accessioned2020-03-26T20:19:39Z
dc.date.available2020-03-26T20:19:39Z
dc.date.issued2019
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractTreacher Collins syndrome (TCS) is a rare autosomal dominant congenital disorder characterized by various craniofacial malformations. The estimated incidence is 1 in 50000 live births. Bilaterally symmetric anomalies of the structure are present within the first and second branchial arches. Characteristic facial findings includes bilateral hypoplasia of the malar bones and mandible. This syndrome most commonly results from mutations in the TCOF1 gene. Here we present a five-year-old female patient with syndromic appearance and hearing loss. The patient had various facial dysmorphic features and malformed bilateral pinnae and left ear microtia. According to the clinical features, we suspected TCS and sequence analysis of TCOF1 gene was performed. A heterozygous new mutation c. 1722_1731delCATCCTCCAG in exon 12 of the TCOF1 gene was detected. It has been determined that this mutation is pathogenic according to the in silico prediction tools. The current study further expands the TCOF1 mutation spectrum.en_US
dc.identifier.citationCavdartepe, B. E., Kocak, N., Yasa, N., Cora, T. (2019). Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene, Erciyes Univ SCH Medicine. 41(1). 111-113.
dc.identifier.doi10.14744/etd.2019.62144en_US
dc.identifier.endpage113en_US
dc.identifier.issn2149-2247en_US
dc.identifier.issn2149-2549en_US
dc.identifier.issue1en_US
dc.identifier.pmid#YOKen_US
dc.identifier.startpage111en_US
dc.identifier.urihttps://dx.doi.org/10.14744/etd.2019.62144
dc.identifier.urihttps://hdl.handle.net/20.500.12395/38355
dc.identifier.volume41en_US
dc.identifier.wosWOS:000462172800024en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.publisherERCIYES UNIV SCH MEDICINEen_US
dc.relation.ispartofERCIYES MEDICAL JOURNALen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectMutationen_US
dc.subjectTCOF1 geneen_US
dc.subjectTreacher Collins syndromeen_US
dc.subjecthearing lossen_US
dc.titleTreacher collins syndrome with a novel deletion in the tcof1 geneen_US
dc.typeArticleen_US

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