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Nance-horan syndrome: characterization of dental, clinical and molecular features in three new families

dc.contributor.coauthorKalayci, Tugba
dc.contributor.coauthorAltunoglu, Umut
dc.contributor.coauthorUyguner, Zehra Oya
dc.contributor.departmentSchool of Medicine
dc.contributor.departmentGraduate School of Health Sciences
dc.contributor.kuauthorAltunoğlu, Umut
dc.contributor.kuauthorBörklü Yücel, Esra
dc.contributor.kuauthorEraslan, Serpil
dc.contributor.kuauthorKayserili, Hülya
dc.contributor.kuauthorSaraçoğlu, Hilal Pırıl
dc.contributor.schoolcollegeinstituteGRADUATE SCHOOL OF HEALTH SCIENCES
dc.contributor.schoolcollegeinstituteSCHOOL OF MEDICINE
dc.date.accessioned2025-01-19T10:34:09Z
dc.date.issued2023
dc.description.abstractBackgroundNance-Horan syndrome (NHS; MIM 302,350) is an extremely rare X-linked dominant disease characterized by ocular and dental anomalies, intellectual disability, and facial dysmorphic features.Case presentationWe report on five affected males and three carrier females from three unrelated NHS families. In Family 1, index (P1) showing bilateral cataracts, iris heterochromia, microcornea, mild intellectual disability, and dental findings including Hutchinson incisors, supernumerary teeth, bud-shaped molars received clinical diagnosis of NHS and targeted NHS gene sequencing revealed a novel pathogenic variant, c.2416 C > T; p.(Gln806*). In Family 2, index (P2) presenting with global developmental delay, microphthalmia, cataracts, and ventricular septal defect underwent SNP array testing and a novel deletion encompassing 22 genes including the NHS gene was detected. In Family 3, two half-brothers (P3 and P4) and maternal uncle (P5) had congenital cataracts and mild to moderate intellectual deficiency. P3 also had autistic and psychobehavioral features. Dental findings included notched incisors, bud-shaped permanent molars, and supernumerary molars. Duo-WES analysis on half-brothers showed a hemizygous novel deletion, c.1867delC; p.(Gln623ArgfsTer26).ConclusionsDental professionals can be the first-line specialists involved in the diagnosis of NHS due to its distinct dental findings. Our findings broaden the spectrum of genetic etiopathogenesis associated with NHS and aim to raise awareness among dental professionals.
dc.description.indexedbyWOS
dc.description.indexedbyScopus
dc.description.indexedbyPubMed
dc.description.issue1
dc.description.openaccessGreen Published, gold, Green Submitted
dc.description.publisherscopeInternational
dc.description.sponsoredbyTubitakEuN/A
dc.description.volume23
dc.identifier.doi10.1186/s12903-023-03029-4
dc.identifier.issn1472-6831
dc.identifier.quartileQ1
dc.identifier.scopus2-s2.0-85159966700
dc.identifier.urihttps://doi.org/10.1186/s12903-023-03029-4
dc.identifier.urihttps://hdl.handle.net/20.500.14288/26742
dc.identifier.wos994286200001
dc.keywordsNance-Horan syndrome
dc.keywordsCataracts and teeth anomalies
dc.keywordsHutchinson teeth
dc.keywordsBud-shaped molars
dc.keywordsScrewdriver shaped incisors
dc.keywordsSupernumerary teeth
dc.language.isoeng
dc.publisherBMC
dc.relation.ispartofBMC Oral Health
dc.subjectDentistry
dc.subjectMedicine
dc.titleNance-horan syndrome: characterization of dental, clinical and molecular features in three new families
dc.typeJournal Article
dspace.entity.typePublication
local.contributor.kuauthorKayserili, Hülya
local.contributor.kuauthorBörklü Yücel, Esra
local.contributor.kuauthorEraslan, Serpil
local.contributor.kuauthorAltunoğlu, Umut
local.contributor.kuauthorSaraçoğlu, Hilal Pırıl
local.publication.orgunit1SCHOOL OF MEDICINE
local.publication.orgunit1GRADUATE SCHOOL OF HEALTH SCIENCES
local.publication.orgunit2School of Medicine
local.publication.orgunit2Graduate School of Health Sciences
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