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

Bonati, Maria Teresa; Feresin, Agnese; Prontera, Paolo; Michieletto, Paola; Gambacorta, Valeria; Ricci, Giampietro; Orzan, Eva

doi:10.3390/genes15060677

This is an early access version, the complete PDF, HTML, and XML versions will be available soon.

Open AccessReview

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

by

Maria Teresa Bonati

^1,*,†

,

Agnese Feresin

^2,*,†

,

Paolo Prontera

³,

Paola Michieletto

¹,

Valeria Gambacorta

⁴

,

Giampietro Ricci

⁴ and

Eva Orzan

¹

Institute for Maternal and Child Health—Institute for Maternal and Child Health “Burlo Garofolo”, 34137 Trieste, Italy

²

Independent Researcher, 33059 Fiumicello Villa Vicentina, Italy

³

Medical Genetics Unit, S. Maria della Misericordia Hospital, 06129 Perugia, Italy

⁴

Department of Medicine and Surgery, Section of Otorhinolaryngology, University of Perugia, 06129 Perugia, Italy

^*

Authors to whom correspondence should be addressed.

^†

These authors contributed equally to this work.

Genes 2024, 15(6), 677; https://doi.org/10.3390/genes15060677

Submission received: 29 April 2024 / Revised: 17 May 2024 / Accepted: 21 May 2024 / Published: 23 May 2024

(This article belongs to the Section Human Genomics and Genetic Diseases)

Download Review Reports Versions Notes

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.

Keywords: hearing loss; congenital hearing loss; inner ear malformation; IP3; contiguous gene syndrome; microduplication; microdeletion; microarray; Xq21 deletion

Share and Cite

MDPI and ACS Style

Bonati, M.T.; Feresin, A.; Prontera, P.; Michieletto, P.; Gambacorta, V.; Ricci, G.; Orzan, E. Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review. Genes 2024, 15, 677. https://doi.org/10.3390/genes15060677

AMA Style

Bonati MT, Feresin A, Prontera P, Michieletto P, Gambacorta V, Ricci G, Orzan E. Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review. Genes. 2024; 15(6):677. https://doi.org/10.3390/genes15060677

Chicago/Turabian Style

Bonati, Maria Teresa, Agnese Feresin, Paolo Prontera, Paola Michieletto, Valeria Gambacorta, Giampietro Ricci, and Eva Orzan. 2024. "Contiguous Gene Syndromes and Hearing Loss: A Clinical Report of Xq21 Deletion and Comprehensive Literature Review" Genes 15, no. 6: 677. https://doi.org/10.3390/genes15060677

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Menu

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

Abstract

Share and Cite

Article Metrics

Article Access Statistics

Further Information

Guidelines

MDPI Initiatives

Follow MDPI