Migration and fate of vestibular melanocytes during the development of the human inner ear

Beelen, Edward S.A. van; Valk, Wouter H. van der; Groot, John C.M.J. de; Hensen, Erik F.; Locher, Heiko; Benthem, Peter Paul G. van

doi:10.1002/dneu.22786

Cited by 18 publications

(22 citation statements)

References 70 publications

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“…Tissue was obtained at the developmental stages W13 ( n = 1) and W17 ( n = 1). Inner ears were fixed in 4% paraformaldehyde, decalcified and embedded in paraffin as previously described (van Beelen et al, 2020 ). Sections (5 μm) were cut using a HM 355S rotary microtome (Thermo Fisher Diagnostics).…”

Section: Methods and Results Of Clinical Genetic Testing And Immunohi...mentioning

confidence: 99%

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Koene

Knijnenburg

Hoffer

et al. 2022

American J of Med Genetics Pt A

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Previously, mutations in the AMMECR1 gene have been described in six males with developmental delay, sensorineural hearing loss (SNHL) and/or congenital abnormalities, including fetal nuchal edema, fetal pericardial effusion, talipes, congenital hip dysplasia, elliptocytosis and cleft palate. In this report, we present three female relatives of a male fetus with an intragenic deletion in this X‐linked gene. All three women reported hearing loss and one was born with a soft cleft palate and hip dysplasia. The audiograms showed mild to moderate SNHL with a variable pattern of the affected frequencies. Immunohistochemical analysis of fetal cochlea was performed confirming the expression of AMMECR1 in the human inner ear. Since hearing loss, cleft palate and congenital hip dysplasia were reported before in male AMMECR1 point mutation carriers and AMMECR1 is expressed in fetal inner ear, we suggest that female carriers may display a partial phenotype in this X‐linked condition.

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Section: Methods and Results Of Clinical Genetic Testing And Immunohi...mentioning

confidence: 99%

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Koene

Knijnenburg

Hoffer

et al. 2022

American J of Med Genetics Pt A

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“…Studies made by van Beelen et al showed that before 7 week of embriogenesis vestibular melanocytes are localised around the utricle and the ampullae in the inner ear. Melanocytes in the saccule were not observed in any of the developmental stages of the inner ear during embryogenesis [5,6].…”

Section: Introductionmentioning

confidence: 85%

Is there a correlation between vitiligo and hearing loss? - review of the literature

Barbara

2022

J Educ Health Sport

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Vitiligo is the most common cause of hipopigmentation occuring with a frequency of 0.5-2% relying on impairment of melanin production caused by the loss of melanocytes. Melanocytes are observed not only in the skin's epidermis and hair follicles but also in the mucosa, the uvea, mesencephalon and on the structures of inner ear – including the stria vascularis, the cochlea and the dark cell areas in the vestibular organs where they play role in regulation auditory and equilibrium functions. These rationale prompted scientists to study the link between hearing loss and vitiligo. Scientists' opinions are divided in this respect - some of them, as a result of their research, see a possible connection, others do not see a correlation between the two diseases. In this review, we present the latest studies evaluating the correlation of hearing impairment with vitiligo.

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“…Melanocytes of the vestibular system can mainly be found in the dark cell area of the utricle and the ampulla of the semicircular canals [ 22 ], closely aligned with the dark cells. In fact, it is uncommon to find them in the saccule and the other semicircular canals, because of the absence of dark cell epithelium in these locations.…”

Section: Discussionmentioning

confidence: 99%

Audiological and vestibular evaluations in vitiligo patients

Manno

Pace

Iannella

et al. 2021

Bosn J of Basic Med Sci

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The aim of this paper was to investigate audiological abnormalities and potential vestibular injury in a sample of vitiligo subjects. Thirty-five patients with non-segmental vitiligo (NSV) were enrolled in the study. They underwent pure tonal audiometry (PTA), vestibular Fitzgerald-Hallpike caloric test, C-VEM, and O-VEMP testing. The χ2 test and multiple regression analysis were performed. At PTA, 69% of patients presented with bilateral hearing loss, 8% monaural hearing loss, and 23% normal values. Bilateral caloric stimulations were performed and demonstrated that 14% of patients had a monolateral and 9% had a bilateral pathological response. VEMPs analysis showed that 20% of patients had no O-VEMPs response and 3% had no C-VEMPs response. Comparison between the normal values of healthy subjects and NSV patients showed an alteration of VEMPs in 44%. Multiple regression showed no statistical differences. We propose a specific diagnostic protocol employing PTA, bithermal caloric tests, C-VEMP, and O-VEMP testing to evaluate audio-vestibular damage. Our data were concordant with the anatomic-physiological melanocytic distribution and their possible degeneration linked with NSV.

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Migration and fate of vestibular melanocytes during the development of the human inner ear

Cited by 18 publications

References 70 publications

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Hearing loss, cleft palate, and congenital hip dysplasia in female carriers of an intragenic deletion of AMMECR1

Is there a correlation between vitiligo and hearing loss? - review of the literature

Audiological and vestibular evaluations in vitiligo patients

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