The Journal of International
Advanced Otology
Case Report

Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation

1.

Department of ENT & Audiology, University Hospital of Ferrara, Ferrara, Italy

2.

Institute for Maternal and Child Health – IRCCS, Burlo Garofolo, Trieste, Italy

3.

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy

4.

Medical Genetic Unit, Ferrara University Hospital, Ferrara, Italy

J Int Adv Otol 2021; 17: 81-83
DOI: 10.5152/iao.2020.8179
Read: 123 Downloads: 49 Published: 29 January 2021

This paper aims to present a third world case of Non-Syndromic sensorineural hearing loss (NSHL) due to a novel missense variant in COL11A1 gene, defined as DFNA37 non-syndromic hearing loss. The clinical features of a 6-year-old boy affected by a bilateral moderate to severe down-sloping sensorineural hearing loss are presented, as well as the genetic analysis, the latter identifying a heterozygous missense variation in the COL11A1 gene. In addition, in families with autosomal dominant transmission, COL11A1 gene should be considered in the genetic workup of the NSHL with prelingual onset.

Cite this article as: Ciorba A, Corazzi V, Melegatti M, Morgan A, Pelliccione G, Giorgia Girotto G, et al. Non-Syndromic Sensorineural Prelingual and Postlingual Hearing Loss due to COL11A1 Gene Mutation. J Int Adv Otol 2021; 17(1): 81-3.

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