A Vestibular Phenotype for Waardenburg Syndrome?

Black, F. Owen; Pesznecker, Susan; Kim, Allen; Gianna, Claire C.

doi:10.1097/00129492-200103000-00012

Cited by 26 publications

(27 citation statements)

References 23 publications

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“…The prevalence of vestibular dysfunction in WS is not well-established but may be high. 36 Results of vestibular function tests were only available for 6 of our patients. The most severe imaging pattern (agenesis of all canals) was associated with complete loss of vestibular function.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

Elmaleh‐Bergès¹,

Baumann

Noël-Pétroff

et al. 2012

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Waardenburg syndrome, characterized by deafness and pigmentation abnormalities, is clinically and genetically heterogeneous, consisting of 4 distinct subtypes and involving several genes. SOX10 mutations have been found both in types 2 and 4 Waardenburg syndrome and neurologic variants. The purpose of this study was to evaluate both the full spectrum and relative frequencies of inner ear malformations in these patients.

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Section: Discussionmentioning

confidence: 99%

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

Elmaleh‐Bergès¹,

Baumann

Noël-Pétroff

et al. 2012

AJNR Am J Neuroradiol

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“…The most frequent inner ear malformations are vestibular aqueduct dilatations and semicircular canal malformations (dilatation to absence) [Higashi et al, 1992;Madden et al, 2003]. The prevalence of vestibular dysfunctions is not well established [Black et al, 2001;Hageman and Oosterveld, 1977]. Vertigo is rare, but vestibular function abnormalities at caloric or rotation tests were described [Black et al, 2001;Hageman and Delleman, 1977;Hildesheimer et al, 1989].…”

Section: Clinical Features and Classificationmentioning

confidence: 99%

“…The prevalence of vestibular dysfunctions is not well established [Black et al, 2001;Hageman and Oosterveld, 1977]. Vertigo is rare, but vestibular function abnormalities at caloric or rotation tests were described [Black et al, 2001;Hageman and Delleman, 1977;Hildesheimer et al, 1989]. A walking delay can occur in cases of vestibular bilateral areflexia associated with semicircular canal malformations.…”

Section: Clinical Features and Classificationmentioning

confidence: 99%

Review and update of mutations causing Waardenburg syndrome

et al. 2010

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Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the clinical classification of WS. Six genes are involved in this syndrome: PAX3 (encoding the paired box 3 transcription factor), MITF (microphthalmia-associated transcription factor), EDN3 (endothelin 3), EDNRB (endothelin receptor type B), SOX10 (encoding the Sry bOX10 transcription factor), and SNAI2 (snail homolog 2), with different frequencies. In this review we provide an update on all WS genes and set up mutation databases, summarize molecular and functional data available for each of them, and discuss the applications in diagnostics and genetic counseling.

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“…Waardenburg syndrome is an autosomal dominant disorder characterized by deafness and hypopigmentation due to the absence of melanocytes in the inner ear, eyes, hair and skin [Read, 2000;Tachibana, 2001]. Black et al [2001] also described vertigo in patients with Waardenburg syndrome. Waardenburg syndrome comprises four subtypes that vary in some symptoms [for a review, see Tachibana et al, 2003].…”

Section: Introductionmentioning

confidence: 99%

In vitro Isolation and Cell Culture of Vestibular Inner Ear Melanocytes

Hanke¹,

Kief

Leuwer³

et al. 2005

Audiol Neurotol

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Introduction: Melanocytes of the membranous labyrinth of the inner ear have been described morphologically in various contexts. Nature and functions of these cells are as yet not completely clear, even though several hypotheses exist regarding the same. The limited knowledge is due in part to a lack of methods regarding in vitro cell culture. The aim of this study was to describe conditions for the successful cell culture of vestibular inner ear melanocytes (VIEM), to compare their growth properties with those of epidermal melanocytes, and to characterize them immunohistochemically. Materials and Methods: Membranous labyrinth cells from freshly slaughtered sheep were isolated, and melanocytes and fibroblasts subsequently cultured. In addition, melanocytes from the skin of the same sheep were cultured. Antibodies specific to tyrosinase, tyrosinase-related protein 1 (TRP-1/Mel-5), and melanoma-specific antigen A (Melan A) were used to analyze the cultured cells. Results: The proliferation of VIEM was retarded in comparison to epidermal melanocytes. After 14 days, VIEM began to proliferate for the first time, whereas epidermal melanocytes proliferated already after 7 days. In contrast to epidermal melanocytes, the culturing process of VIEM seemed to be dependent on the presence of fibroblasts, and VIEM often accumulated in the vicinity of fibroblasts forming three-dimensional clusters. Moreover, VIEM showed a higher ratio of highly pigmented cells with a round cell shape and small dendrites in comparison to epidermal melanocytes. Immunohistochemical techniques proved the VIEM to be positive for Melan A, TRP-1 and, in the majority of cases, also for tyrosinase. Conclusion: We successfully cultured melanocytes of the inner ear vestibular labyrinth for the first time and demonstrated melanocytic characteristics of these cells. This accomplishment will provide the opportunity to investigate VIEM in more detail in future experiments.

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A Vestibular Phenotype for Waardenburg Syndrome?

Abstract: Patients with Waardenburg syndrome may experience primarily vestibular symptoms without hearing loss. Electrocochleography and vestibular function tests appear to be the most sensitive measures of otologic abnormalities in such patients.

Cited by 26 publications

References 23 publications

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome andSOX10Mutations

Review and update of mutations causing Waardenburg syndrome

In vitro Isolation and Cell Culture of Vestibular Inner Ear Melanocytes

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