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Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome
L. Varga, D. Danis, J. Drsata, I. Masindova, M. Skopkova, Z. Slobodova, V. Chrobok, M. Profant, D. Gasperikova
International journal of pediatric otorhinolaryngology.
2021 ;
140 (-) :
110499.
[pub] 20201113
Language English Country Ireland
Document type Journal Article
Persistent link
https://www.medvik.cz/link/bmc21019550
- MeSH
- Phenotype MeSH
- Humans MeSH
- Mutation MeSH
- Receptor, Endothelin B genetics MeSH
- Syndrome MeSH
- SOXE Transcription Factors genetics MeSH
- Waardenburg Syndrome * genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous group of inherited disorders manifesting with sensorineural hearing loss and pigmentary anomalies. Here we present two Caucasian families with novel variants in EDNRB and SOX10 representing both sides of phenotype spectrum in WS. The c.521G>A variant in EDNRB identified in Family 1 leads to disruption of the cysteine disulfide bridge between extracellular segments of endothelin receptor type B and causes relatively mild phenotype of WS type II with low penetrance. The novel nonsense variant c.900C>A in SOX10 detected in Family 2 leads to PCWH syndrome and was found to be lethal.
References provided by Crossref.org
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- $a Varga, Lukas $u Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University Bratislava, Slovakia; DIABGENE Laboratory, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: varga.lukas@gmail.com
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- $a Danis, Daniel $u DIABGENE Laboratory, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: daniel.danis@savba.sk
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- $a Drsata, Jakub $u Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Hradec Kralove, Charles University, Faculty of Medicine in Hradec Kralove, Czech Republic. Electronic address: jakub.drsata@fnhk.cz
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- $a Slobodova, Zuzana $u Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University Bratislava, Slovakia; DIABGENE Laboratory, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia. Electronic address: suzanne.slobodova@gmail.com
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- $a Chrobok, Viktor $u Department of Otorhinolaryngology and Head and Neck Surgery, University Hospital Hradec Kralove, Charles University, Faculty of Medicine in Hradec Kralove, Czech Republic. Electronic address: viktor.chrobok@fnhk.cz
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- $a Profant, Milan $u Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine and University Hospital, Comenius University Bratislava, Slovakia. Electronic address: profant@fnorl.sk
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