Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Tranebjærg, Lisbeth; Strenzke, Nicola; Lindholm, Sture; Rendtorff, Nanna Dahl; Poulsen, Hanne; Khandelia, Himanshu; Kopeć, Wojciech; Lyngbye, Troels; Hamel, Christian; Delettre, Cécile; Bocquet, Béatrice; Bille, Mikkel; Owen, Hanne H; Bek, Toke; Jensen, Hanne; Østergaard, Karen; Möller, Claes; Luxon, Linda M.; Carr, Lucinda; Wilson, Louise C.; Rajput, Kaukab; Sirimanna, Tony; Harrop‐Griffiths, Katherine; Rahman, Shamima; Vona, Barbara; Doll, Julia; Haaf, Thomas; Bartsch, Oliver; Rosewich, Hendrik; Moser, Tobias; Bitner‐Glindzicz, Maria

doi:10.1007/s00439-018-1870-7

Cited by 3 publications

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“…Also, p.E818K is seemingly tightly coupled with CAPOS syndrome and has never been reported in other two disorders (Han et al, 2017; Figure 3). There is no report of hearing or visual impairment in AHC and RDP, which is vastly different from CAPOS syndrome (Figure 4; Tranebjaerg et al, 2018a). However, those three entities present with an expanding phenotypic spectrum and are more often reported to share somewhat overlapping neurological phenotypes.…”

Section: Discussionmentioning

confidence: 99%

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Wang

Jin

Lan

et al. 2021

Front. Cell Dev. Biol.

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Objective: The objective of this study is to analyze the genotype–phenotype correlation of patients with auditory neuropathy (AN), which is a clinical condition featuring normal cochlear responses and abnormal neural responses, and ATP1A3 c.2452 G > A (p.E818K), which has been generally recognized as a genetic cause of cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome.Methods: Four patients diagnosed as AN by clinical evaluation and otoacoustic emission and auditory brainstem responses were recruited and analyzed by next-generation sequencing to identify candidate disease-causing variants. Sanger sequencing was performed on the patients and their parents to verify the results, and short tandem repeat-based testing was conducted to confirm the biological relationship between the parents and the patients. Furthermore, cochlear implantation (CI) was performed in one AN patient to reconstruct hearing.Results: Four subjects with AN were identified to share a de novo variant, p.E818K in the ATP1A3 gene. Except for the AN phenotype, patients 1 and 2 exhibited varying degrees of neurological symptoms, implying that they can be diagnosed as CAPOS syndrome. During the 15 years follow-up of patient 1, we observed delayed neurological events and progressive bilateral sensorineural hearing loss in pure tone threshold (pure tone audiometry, PTA). Patient 2 underwent CI on his left ear, and the result was poor. The other two patients (patient 3 and patient 4, who were 8 and 6 years old, respectively) denied any neurological symptoms.Conclusion:ATP1A3 p.E818K has rarely been documented in the Chinese AN population. Our study confirms that p.E818K in the ATP1A3 gene is a multiethnic cause of AN in Chinese individuals. Our study further demonstrates the significance of genetic testing for this specific mutation for identifying the special subtype of AN with somewhat favorable CI outcome and offers a more accurate genetic counseling about the specific de novo mutation.

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Section: Discussionmentioning

confidence: 99%

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Wang

Jin

Lan

et al. 2021

Front. Cell Dev. Biol.

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“…ATP1A3 gene defines the morphology of the transmembrane Na/K-ATPase pump. The patient has cerebellar ataxia, pes cavus, optic atrophy, areflexia, and SNHL, called CAPOS syndrome [41][42][43].…”

Section: Genetic Etiologiesmentioning

confidence: 99%

Auditory neuropathy

Kravos

2023

Updates on Hearing Loss and Its Rehabilitation

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Some patients visit the doctor because of hearing problems in noise. The hearing examination, however, does not show any specifics. Only an extended and targeted investigation leads to the suspicion of auditory neuropathy, which means altered temporal coding of the acoustic signal and explains the problems. Additional investigations show pathology of the synapse between the inner auditory sense and the auditory nerve or the process of conduction along the nerve. The combination of otoacoustic emissions and the auditory brainstem evoked potentials investigations raises the suspicion of auditory neuropathy. Auditory neuropathy occurs in both children and adults. In children, the diagnostic procedure is quite difficult.

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ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

et al. 2021

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The Na+/K+ ATPases are Sodium-Potassium exchanging pumps, with a heteromeric α-β-γ protein complex. The α3 isoform is required as a rescue pump, after repeated action potentials, with a distribution predominantly in neurons of the central nervous system. This isoform is encoded by the ATP1A3 gene. Pathogenic variants in this gene have been implicated in several phenotypes in the last decades. Carriers of pathogenic variants in this gene manifest neurological and non-neurological features in many combinations, usually with an acute onset and paroxysmal episodes triggered by fever or other factors. The first three syndromes described were: (1) rapid-onset dystonia parkinsonism; (2) alternating hemiplegia of childhood; and, (3) cerebellar ataxia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS syndrome). Since their original description, an expanding number of cases presenting with atypical and overlapping features have been reported. Because of this, ATP1A3-disorders are now beginning to be viewed as a phenotypic continuum representing discrete expressions along a broadly heterogeneous clinical spectrum.

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Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

Abstract: The following information was inadvertently omitted in the original publication.

Cited by 3 publications

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Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype–Phenotype Study and CI Management

Auditory neuropathy

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum

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