# Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review

## TL;DR

This paper reports a new case of Xq21 deletion and reviews literature to highlight the role of genetic analysis in understanding hearing loss in contiguous gene syndromes.

## Contribution

The study presents a novel Xq21 deletion case and provides a comprehensive literature review on hearing loss in contiguous gene syndromes.

## Key findings

- A novel 3.7 Mb Xq21 deletion was identified in a patient with hearing loss.
- The review confirms the importance of cytogenomic microarray analysis in diagnosing unexplained hearing loss.
- Xq21 deletion syndrome is associated with hearing loss and other clinical features.

## Abstract

Given the crucial role of the personalized management and treatment of hearing loss (HL), etiological investigations are performed early on, and genetic analysis significantly contributes to the determination of most syndromic and nonsyndromic HL cases. Knowing hundreds of syndromic associations with HL, little comprehensive data about HL in genomic disorders due to microdeletion or microduplications of contiguous genes is available. Together with the description of a new patient with a novel 3.7 Mb deletion of the Xq21 critical locus, we propose an unreported literature review about clinical findings in patients and their family members with Xq21 deletion syndrome. We finally propose a comprehensive review of HL in contiguous gene syndromes in order to confirm the role of cytogenomic microarray analysis to investigate the etiology of unexplained HL.