Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

The Laryngoscope
Andrea SimiM A Kenna

Abstract

Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One such gene is STRC, which has been identified as the second most frequent autosomal recessive nonsyndromic gene associated with SNHL in multiple populations. The objective of this study was to investigate the phenotypic presentation and incidence of audiologic progression in pediatric patients with STRC-related hearing loss (HL). Thirty-nine pediatric patients with confirmed HL and biallelic pathogenic STRC mutations were identified at two pediatric hospitals. A retrospective chart review was completed including demographics, medical history, genetic testing results, and audiologic data. HL progression was assessed using air conduction thresholds from pure-tone audiograms and auditory brain stem responses, and masked bone conduction thresholds from pure-tone audiograms. Thirty-six patients had homozygous STRC deletions. Three were compound heterozygotes. All patients had bilateral, symmetric SNHL. Baseline HL was mild in 39% of ears, moderate in 52%, and moderate-severe in 3%. Of the 31 patients for which sufficient data we...Continue Reading

References

Dec 6, 2003·Proceedings of the National Academy of Sciences of the United States of America·Timothy A QuillDavid L Garbers
Dec 29, 2005·American Journal of Human Genetics·Rikkert L SnoeckxGuy Van Camp
May 3, 2006·Clinical Genetics·M B Petersen, P J Willems
Jan 20, 2010·Archives of Otolaryngology--head & Neck Surgery·Margaret A KennaHeidi L Rehm
Feb 16, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Dylan K ChanKay W Chang
Dec 18, 2010·The Journal of Comparative Neurology·Elisabeth VerpyChristine Petit
Jan 1, 2009·BMJ Case Reports·Yuzhou ZhangRichard J H Smith
Jun 26, 2014·Genome Medicine·A Eliot ShearerRichard J H Smith
Oct 7, 2017·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Pavlina PlevovaEva Mrazkova
Feb 10, 2018·Genetic Testing and Molecular Biomarkers·Simona Poisson MarkováPavel Seeman
Mar 15, 2019·Scientific Reports·Yoh YokotaShin-Ichi Usami
Mar 24, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Bong Jik KimByung Yoon Choi

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