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- Title
Hearing dysfunction in heterozygous Mitf<sup> Mi-wh</sup>/+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
- Authors
Ni, Christina; Zhang, Deming; Beyer, Lisa A.; Halsey, Karin E.; Fukui, Hideto; Raphael, Yehoash; Dolan, David F.; Hornyak, Thomas J.
- Abstract
The human deafness-pigmentation syndromes, Waardenburg syndrome ( WS) type 2a, and Tietz syndrome are characterized by profound deafness but only partial cutaneous pigmentary abnormalities. Both syndromes are caused by mutations in MITF. To illuminate differences between cutaneous and otic melanocytes in these syndromes, their development and survival in heterozygous Microphthalmia- White ( Mitf Mi-wh/+) mice were studied and hearing function of these mice characterized. Mitf Mi-wh/+ mice have a profound hearing deficit, characterized by elevated auditory brainstem response thresholds, reduced distortion product otoacoustic emissions, absent endocochlear potential, loss of outer hair cells, and stria vascularis abnormalities. Mitf Mi-wh/+ embryos have fewer melanoblasts during embryonic development than their wild-type littermates. Although cochlear melanocytes are present at birth, they disappear from the Mitf Mi-wh/+ cochlea between P1 and P7. These findings may provide insight into the mechanism of melanocyte and hearing loss in human deafness-pigmentation syndromes such as WS and Tietz syndrome and illustrate differences between otic and follicular melanocytes.
- Publication
Pigment Cell & Melanoma Research, 2013, Vol 26, Issue 1, p78
- ISSN
1755-1471
- Publication type
Academic Journal
- DOI
10.1111/pcmr.12030