@misc{10481/82064,
year = {2023},
month = {3},
url = {https://hdl.handle.net/10481/82064},
abstract = {Vertigo due to vestibular dysfunction is rare in children. The elucidation of its etiology will
improve clinical management and the quality of life of patients. Genes for vestibular dysfunction
were previously identified in patients with both hearing loss and vertigo. This study aimed to
identify rare, coding variants in children with peripheral vertigo but no hearing loss, and in patients
with potentially overlapping phenotypes, namely, Meniere’s disease or idiopathic scoliosis. Rare
variants were selected from the exome sequence data of 5 American children with vertigo, 226 Spanish
patients with Meniere’s disease, and 38 European–American probands with scoliosis. In children with
vertigo, 17 variants were found in 15 genes involved in migraine, musculoskeletal phenotypes, and
vestibular development. Three genes, OTOP1, HMX3, and LAMA2, have knockout mouse models for
vestibular dysfunction. Moreover, HMX3 and LAMA2 were expressed in human vestibular tissues.
Rare variants within ECM1, OTOP1, and OTOP2 were each identified in three adult patients with
Meniere’s disease. Additionally, an OTOP1 variant was identified in 11 adolescents with lateral
semicircular canal asymmetry, 10 of whom have scoliosis. We hypothesize that peripheral vestibular
dysfunction in children may be due to multiple rare variants within genes that are involved in the
inner ear structure, migraine, and musculoskeletal disease.},
organization = {Philippine Council for Health and Research Development of the Department of Science and Technology (PCHRD-DOST) under the Research Enrichment (Sandwich) Grant of the Accelerated Science and Technology Human Resource Development Program},
organization = {US National Institutes of Health (NIH)-National Institute on Deafness and Other Communication Disorders (NIDCD)
	T32 DC012280},
organization = {NIH through the NIDCD
	R01 DC019642,
	
	R01 DC013912},
organization = {United States Department of Health & Human Services
National Institutes of Health (NIH) - USA
NIH National Institute of Arthritis & Musculoskeletal & Skin Diseases (NIAMS)
	R01 AR068292},
organization = {Junta de Andalucia
	PY20_00303},
publisher = {MDPI},
keywords = {Balance disorder},
keywords = {Dizziness},
keywords = {HMX3},
keywords = {LAMA2},
keywords = {Meniere’s disease},
keywords = {OTOP1},
keywords = {Rare variant},
keywords = {Semicircular canal},
keywords = {Vertigo},
keywords = {Vestibular},
title = {Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction},
doi = {10.3390/genes14040831},
author = {Sumalde, Angelo Augusto M. and Frejo Navarro, Lidia and Naranjo Varela, Pablo Román and Lopez-Escamez, Jose A.},
}