Etiology of Childhood Profound Sensorineural Hearing Loss: The Role of Hearing Loss Gene Panel Testing.
GJB2
cochlear implant
connexin
etiology of hearing loss
genetic testing
hearing loss panel
next generation sequencing
profound hearing loss
Journal
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery
ISSN: 1097-6817
Titre abrégé: Otolaryngol Head Neck Surg
Pays: England
ID NLM: 8508176
Informations de publication
Date de publication:
01 Jun 2024
01 Jun 2024
Historique:
revised:
22
04
2024
received:
26
06
2023
accepted:
12
05
2024
medline:
1
6
2024
pubmed:
1
6
2024
entrez:
1
6
2024
Statut:
aheadofprint
Résumé
Establishing the cause of hearing loss (HL) is important and rewarding, though not without its challenges. While our ability to identify the etiology for HL has improved with advances in scientific knowledge, a significant proportion of cases remain of unknown etiology. Recent protocol changes within the NHS Genomic Medicine Service support the utilization of the HL gene panel test, rather than individual gene tests. In light of these changes, determining the yield of these more extensive panel tests is important in informing future practice. Retrospective study. The Cochlear Implant (CI) Department at Great Ormond Street Hospital (GOSH). Four hundred seventy-six children with profound HL were identified from a database of referrals to the GOSH CI Department. Data on etiology of HL including genetic diagnosis was collected from hospital notes on an electronic patient records system and hospital genetics database. We identified a positive result in 163/476 (34%) cases through the gene panel test, representing an additional 19% yield to current level 1 investigations. Genetic HL, including both syndromic (including those not covered by the HL gene panel) and nonsyndromic (209/476, 44%) was the most common etiology in our cohort. Perinatal, intrauterine, ototoxicity, meningitis, and encephalitis categories altogether comprised 97/476 (20%) cases. Gene panel testing provides significant additional yield over current level 1 investigations which include GJB2 testing only. This has far-reaching implications for how we optimize investigations into HL in children and counsel families, and for future early interventions.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 American Academy of Otolaryngology–Head and Neck Surgery Foundation.
Références
Morton CC, Nance WE. Newborn hearing screening—a silent revolution. N Engl J Med. 2006;354(20):2151‐2164.
Bamiou DE, MacArdle B, Bitner‐Glinzicz M, Sirimanna T. Aetiological investigations of hearing loss in childhood: a review. Clin Otolaryngol Allied Sci. 2000;25(2):98‐106.
Robertson CMT, Howarth TM, Bork DLR, Dinu IA. Permanent bilateral sensory and neural hearing loss of children after neonatal intensive care because of extreme prematurity: a thirty‐year study. Pediatrics. 2009;123(5):e797‐e807.
McDermott JH, Molina‐Ramírez LP, Bruce IA, et al. Diagnosing and preventing hearing loss in the genomic age. Trends Hear. 2019;23:2331216519878983.
Smith RJ, Bale Jr JF, White KR. Sensorineural hearing loss in children. Lancet. 2005;365(9462):879‐890.
Sloan‐Heggen CM, Bierer AO, Shearer AE, et al. Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. Hum Genet. 2016;135(4):441‐450.
van Beeck Calkoen EA, Engel MSD, van de Kamp JM, et al. The etiological evaluation of sensorineural hearing loss in children. Eur J Pediatr. 2019;178(8):1195‐1205.
Kelsell DP, Dunlop J, Stevens HP, et al. Connexin 26 mutations in hereditary non‐syndromic sensorineural deafness. Nature. 1997;387(6628):80‐83.
Azaiez H, Booth KT, Ephraim SS, et al. Genomic landscape and mutational signatures of deafness‐associated genes. Am J Hum Genet. 2018;103(4):484‐497. doi:10.1016/j.ajhg.2018.08.006
Usami S, Nishio S. The genetic etiology of hearing loss in Japan revealed by the social health insurance‐based genetic testing of 10K patients. Hum Genet. 2022;141(3‐4):665‐681. doi:10.1007/s00439-021-02371-3
British Association of Audiovestibular Physicians (BAAP). Guidelines for aetiological investigation into severe to profound bilateral permanent childhood hearing impairment April 2015. Accessed May 25, 2024. https://www.baap.org.uk/wp-content/uploads/2023/02/guidelines_for_aetiological_investigation_into_severe_to_profoundbilateral_permanent_childhood_hearing_impairment.pdf
Parker M, Bitner‐Glindzicz M. Genetic investigations in childhood deafness. Arch Dis Child. 2015;100(3):271‐278.
Jaan A, Rajnik M. TORCH Complex. In: StatPearls [Internet]. StatPearls Publishing; 2024. Accessed May 25, 2024. https://www.ncbi.nlm.nih.gov/books/NBK560528/
Barbi M, Binda S, Caroppo S, Ambrosetti U, Corbetta C, Sergi P. A wider role for congenital cytomegalovirus infection in sensorineural hearing loss. Pediatr Infect Dis J. 2003;22:39‐42.
Kenneson A, Cannon MJ. Review and meta‐analysis of the epidemiology of congenital cytomegalovirus (CMV) infection. Rev Med Virol. 2007;17:253‐276.
Belcher R, Virgin F, Duis J, Wootten C. Genetic and non‐genetic workup for pediatric congenital hearing loss. Front Pediatr. 2021;9:204.
Moon PK, Qian ZJ, Stevenson DA, Chang KW. Single versus multigene testing for hereditary hearing loss: use and costs in a commercially insured cohort. Otolaryngol Head Neck Surg. 2023;168(6):1472‐1476.
Feinmesser M, Tell L, Levi H. Etiology of childhood deafness with reference to the group of unknown cause. Int J Audiol. 1986;25(2):65‐69. doi:10.3109/00206098609078371
Lv J, Wang H, Cheng X, et al. AAV1‐hOTOF gene therapy for autosomal recessive deafness 9: a single‐arm trial. Lancet. 2024;403(10441):2317‐2325. doi:10.1016/S0140-6736(23)02874-X
Spyridakou C, Chan J, Tan J, et al. Preparing for otoferlin gene therapy trials: a survey of NHS paediatric audiology and cochlear implant services on diagnosis and management of auditory neuropathy spectrum disorder. Int J Pediatr Otorhinolaryngol. 2024;177:111870. doi:10.1016/j.ijporl.2024.111870
Lau SC, Grati M, Isgrig K, et al. Dual‐AAV vector‐mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B. Mol Ther Methods Clin Dev. 2023;30:534‐545. doi:10.1016/j.omtm.2023.08.012
Rajput K, Brown T, Bamiou DE. Aetiology of hearing loss and other related factors versus language outcome after cochlear implantation in children. Int J Pediatr Otorhinolaryngol. 2003;67(5):497‐504.
Naz S, Imtiaz A, Mujtaba G, et al. Genetic causes of moderate to severe hearing loss point to modifiers. Clin Genet. 2017;91(4):589‐598.
Pao J, D'Arco F, Clement E, et al. Re‐examining the cochlea in branchio‐oto‐renal syndrome: genotype‐phenotype correlation. AJNR Am J Neuroradiol. 2022;43(2):309‐314.
Talenti G, Robson C, Severino MS, et al. Characteristic cochlear hypoplasia in patients with Walker‐Warburg syndrome: a radiologic study of the inner ear in α‐dystroglycan‐related muscular disorders. AJNR Am J Neuroradiol. 2021;42(1):167‐172.