Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening

Joseph Peterson; Carla Nishimura; Richard J H Smith

doi:10.1002/lary.28536

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Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening

Journal article

Peer reviewed

Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening

Joseph Peterson, Carla Nishimura and Richard J H Smith

The Laryngoscope, Vol.130(11), pp.2714-2718

11/2020

DOI: 10.1002/lary.28536

PMCID: PMC8697536

PMID: 31985074

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https://www.ncbi.nlm.nih.gov/pmc/articles/8697536View

Open Access

Abstract

To determine the prevalence of children with genetic hearing loss who are cytomegalovirus (CMV) positive at birth and the relative proportion of genetic and CMV etiology among children with congenital bilateral hearing loss. Database review. We performed a review of clinical test results for patients undergoing comprehensive genetic testing for all known hearing loss-associated genes from January 2012 to January 2019. This population was reviewed for reported CMV status and genetic causes of congenital bilateral hearing loss. In the OtoSCOPE database, 61/4,282 patients were found to have a documented CMV status, and 661/4282 had documented bilateral congenital hearing loss. Two patients were identified who had both a positive CMV result and a genetic cause for their hearing loss. Forty-eight percent of patients with bilateral congenital hearing loss (320/661) were found to have a genetic etiology. In 62% (198/320), the hearing loss was associated with pathogenic variants in GJB2, STRC, SLC26A4 or an Usher syndrome-associated gene. We estimate that ~2% of CMV-positive newborns with hearing loss have a known genetic variant as a cause. The subcohort of CMV-positive newborns with symmetric mild-to-moderate bilateral hearing loss will have at least a 7% chance of having pathogenic gene variants associated with hearing loss. In a CMV-positive neonate who failed their newborn hearing screen bilaterally, genetic screening needs to be considered for accurate diagnosis and possible deferment of antiviral treatment. 4 Laryngoscope, 130:2714-2718, 2020.

Cytomegalovirus - genetics

Cytomegalovirus Infections - congenital

Cytomegalovirus Infections - epidemiology

Cytomegalovirus Infections - virology

Female

Genetic Testing - statistics & numerical data

Hearing Loss, Bilateral - congenital

Hearing Loss, Bilateral - epidemiology

Hearing Loss, Bilateral - virology

Humans

Infant, Newborn

Male

Neonatal Screening

Prevalence

Details

Title: Subtitle: Genetic Testing for Congenital Bilateral Hearing Loss in the Context of Targeted Cytomegalovirus Screening
Creators: Joseph Peterson - University of Iowa Hospitals and Clinics
Carla Nishimura - University of Iowa
Richard J H Smith - University of Iowa
Resource Type: Journal article
Publication Details: The Laryngoscope, Vol.130(11), pp.2714-2718
DOI: 10.1002/lary.28536
PMID: 31985074
PMCID: PMC8697536
NLM abbreviation: Laryngoscope
ISSN: 0023-852X
eISSN: 1531-4995
Grant note: R01 DC012049 / NIDCD NIH HHS R01 DC002842 / NIDCD NIH HHS
Language: English
Date published: 11/2020
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984256837202771

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