A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability

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dc.contributor.authorKayhan, Gülsüm
dc.contributor.authorKazan, Hasan Hüseyin
dc.contributor.authorÖztürk, Kübra
dc.contributor.authorSezer, Abdullah
dc.contributor.authorPerçin, Ferda
dc.date.accessioned2025-02-24T16:28:41Z
dc.date.available2025-02-24T16:28:41Z
dc.date.issued2022
dc.departmentFakülteler, Diş Hekimliği Fakültesi, Ağız, Diş ve Çene Radyolojisi Ana Bilim Dalı
dc.description.abstractAuriculocondylar syndrome is a rare autosomal dominant or recessive disorder characterized by question-mark ears, a small mandibular condyle, and micrognathia. From a molecular perspective, auriculocondylar syndrome arises due to mutations in the PLCB4, GNAI3, and EDN1 genes that play roles in the endothelin signaling pathway. Here, we report a patient with findings of auriculocondylar syndrome and an additional mild intellectual disability. The patient’s whole exome sequencing analyses revealed a novel homozygous frameshif t mutation in the PLCB4 gene related to auriculocondylar syndrome Type 2. Our molecular studies indicated that this mutation caused a downreg ulation of PLCB4. This type of PLCB4 mutation has seldom been reported in auriculocondylar syndrome-2 patients and only 2 of them have hadneurode- velopmental anomalies, as in our patient. We think that this study supports the possibility of intellectual disability in indiv iduals with a ho- mozygous truncating variant in the PLCB4 gene and contributes to the literature.
dc.identifier.doi10.5336/caserep.2022-89352
dc.identifier.endpage262
dc.identifier.issn2147-9291
dc.identifier.issue4
dc.identifier.startpage258
dc.identifier.trdizinid1167323
dc.identifier.urihttps://doi.org/10.5336/caserep.2022-89352
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1167323
dc.identifier.urihttps://hdl.handle.net/20.500.14440/354
dc.identifier.volume30
dc.indekslendigikaynakTR-Dizin
dc.language.isoen
dc.relation.ispartofTürkiye Klinikleri Journal of Case Reports
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_TR-Dizin_20250201
dc.subjectNörolojik Bilimler
dc.subjectPediatri
dc.titleA Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability
dc.typeArticle

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