Genetics of vestibular disorders: pathophysiological insights

L Frejo, I Giegling, R Teggi, JA Lopez-Escamez… - Journal of …, 2016 - Springer
The two most common vestibular disorders are motion sickness and vestibular migraine,
affecting 30 and 1–2% of the population respectively. Both are related to migraine and show …

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

N Mahdieh, B Rabbani, S Wiley, MT Akbari… - Journal of human …, 2010 - nature.com
Hearing loss (HL) is the most prevalent sensory defect affecting 1 in 500 neonates. Genetic
factors are involved in half of the cases. The extreme heterogeneity of HL makes it difficult to …

Hypo‐Functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype‐phenotype correlation or …

BY Choi, AK Stewart, AC Madeo, SP Pryor… - Human …, 2009 - Wiley Online Library
Hearing loss with enlargement of the vestibular aqueduct (EVA) can be associated with
mutations of the SLC26A4 gene encoding pendrin, a transmembrane Cl−/I−/HCO …

GJB2, SLC26A4 and mitochondrial DNA A1555G mutations in prelingual deafness in Northern Chinese subjects

YF Guo, YF Guo, XW Liu, J Guan, MK Han… - Acta oto …, 2008 - Taylor & Francis
Conclusion. This genetic epidemiological study demonstrated that 26.65% of the prelingual
deafness in Northern Chinese patients can be detected at younger ages by genetic testing …

The genetic bases for non-syndromic hearing loss among Chinese

XM Ouyang, D Yan, HJ Yuan, D Pu, LL Du… - Journal of human …, 2009 - nature.com
Deafness is an etiologically heterogeneous trait with many known genetic, environmental
causes or a combination thereof. The identification of more than 120 independent genes for …

Distinct and novel SLC26A4/Pendrin mutations in Chinese and US patients with nonsyndromic hearing loss

P Dai, AK Stewart, F Chebib, A Hsu… - Physiological …, 2009 - journals.physiology.org
Mutations of the human SLC26A4/PDS gene constitute the most common cause of
syndromic and nonsyndromic hearing loss. Definition of the SLC26A4 mutation spectrum …

Mutation spectrum of common deafness-causing genes in patients with non-syndromic deafness in the Xiamen Area, China

YI Jiang, S Huang, T Deng, L Wu, J Chen, D Kang… - PloS one, 2015 - journals.plos.org
In China, approximately 30,000 babies are born with hearing impairment each year.
However, the molecular factors causing congenital hearing impairment in the Xiamen area …

A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 …

A Pera, M Villamar, A Vinuela, M Gandía… - European Journal of …, 2008 - nature.com
Pendred syndrome (PS) and DFNB4, a non-syndromic sensorineural hearing loss with
enlargement of the vestibular aqueduct (EVA), are caused by mutations in the SLC26A4 …

Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness

K Lezirovitz, E Pardono… - European Journal of …, 2008 - nature.com
Nonsyndromic autosomal recessive deafness accounts for 80% of hereditary deafness. To
date, 52 loci responsible for autosomal recessive deafness have been mapped and 24 …

Selection of Diagnostically Significant Regions of the SLC26A4 Gene Involved in Hearing Loss

VY Danilchenko, MV Zytsar, EA Maslova… - International Journal of …, 2022 - mdpi.com
Screening pathogenic variants in the SLC26A4 gene is an important part of molecular
genetic testing for hearing loss (HL) since they are one of the common causes of hereditary …