ArticleEuropean journal of human genetics : EJHG2015
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 20 citations in OpenAlex.
- Cell-specific α and β subunit expression patterns of NaScientific reports · 2025Article
- Genetic overlap between temporomandibular disorders and primary headaches: A systematic review.The Japanese dental science review · 2022Review
- Exploring the Hereditary Nature of Migraine.Neuropsychiatric disease and treatment · 2021Review
- Adjuvant Migraine Medications in the Treatment of Sudden Sensorineural Hearing Loss.The Laryngoscope · 2021Article
- Advances in genetics of migraine.The journal of headache and pain · 2019Review
- ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.Scientific reports · 2017Article
- Genetic Variants Associated with Episodic Ataxia in Korea.Scientific reports · 2017Article
- Genetics of ion homeostasis in Ménière's Disease.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2017Article
- Genetics of vestibular disorders: pathophysiological insights.Journal of neurology · 2016Review
- Recent Advances in the Understanding of Vestibular Migraine.Behavioural neurology · 2016Review
- Familial Hemiplegic Migraine with Severe Attacks: A New Report withCase reports in neurological medicine · 2016Article
- ATP1A2 Mutations in Migraine: Seeing through the Facets of an Ion Pump onto the Neurobiology of Disease.Frontiers in physiology · 2016Review
- Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.American journal of medical genetics. Part A · 2015Article
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Authors and funding
15 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary sensorineural hearing loss is an extremely clinical and genetic heterogeneous disorder in humans. Especially, syndromic hearing loss is subdivided by combinations of various phenotypes, and each subtype is related to different genes. We present a new form of progressive hearing loss with migraine found to be associated with a variant in the ATP1A2 gene. The ATP1A2 gene has been reported as the major genetic cause of familial migraine by several previous studies. A Korean family presenting progressive hearing loss with migraine was ascertained. The affected members did not show any aura or other neurologic symptoms during migraine attacks, indicating on a novel phenotype of syndromic hearing loss. To identify the causative gene, linkage analysis and whole-exome sequencing were performed. A novel missense variant, c.571G>A (p.(Val191Met)), was identified in the ATP1A2 gene that showed co-segregation with the phenotype in the family. In silico studies suggest that this variant causes a change in hydrophobic interactions and thereby slightly destabilize the A-domain of Na(+)/K(+)-ATPase. However, functional studies failed to show any effect of the p.(Val191Met) substitution on the catalytic rate of this enzyme. We describe a new phenotype of progressive hearing loss with migraine associated with a variant in the ATP1A2 gene. This study suggests that a variant in Na(+)/K(+)-ATPase can be involved in both migraine and hearing loss.
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