Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy

Chamieh, Sarah (author), Marzin, Pauline (author), Achard, Sophie (author), Blanc, Pierre (author), Jonard, Laurence (author), Battelino, Saba (author), Trebušak Podkrajšek, Katarina (author), Serey-Gaut, Margaux (author), Marlin, Sandrine (author)

The gold standard recommendation for congenital sensorineural hearing loss (SNHL) care is cochlear implantation (CI). Adjusting for confounding factors such as developmental comorbidities is crucial when assessing expected outcomes of the procedure for the patients, their families, and their medical teams. We describe two clinical cases of the deafness and onychodystrophy (DOD) spectrum and the benefit of molecular diagnosis to underline the importance of genetic testing when evaluating potential CI outcomes in syndromic congenital SNHL.

• Language: English
• Keywords: ATP6V1B2, cochlear implantation, DOD, disorders of development, sensorineural hearing loss, syndromic hearing loss, Zimmerman-Laband syndrome
• Work type: Article
• Typology: 1.03 - Other scientific articles
• Organization: MF - Faculty of Medicine
• Publication status: Published
• Publication version: Version of Record
• Year: 2026
• Number of pages: 8 str.
• Numbering: Vol. 82, art. 105090
• PID: 20.500.12556/RUL-184914
• UDC: 616.21
• ISSN on article: 1878-0849
• DOI: 10.1016/j.ejmg.2026.105090
• COBISS.SI-ID: 285043459
• Publication date in RUL: 17.07.2026

Record is a part of a journal

• Title: European journal of medical genetics
• Shortened title: Eur. J. med. genet.
• Publisher: Elsevier
• ISSN: 1878-0849
• COBISS.SI-ID: 251380739

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: polžev vsadek, motnje razvoja, zaznavna naglušnost, sindromska naglušnost, sindrom Zimmerman-Laband, redka genetska motnja