Document Detail

Hearing Dysfunction in Heterozygous Mitf(Mi-wh) /+ Mice, a Model for Waardenburg Syndrome Type 2 and Tietz Syndrome.
MedLine Citation:
PMID:  23020089     Owner:  NLM     Status:  Publisher    
The human deafness-pigmentation syndromes Waardenburg syndrome 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 (ABR) 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 Waardenburg syndrome and Tietz syndrome, and illustrate differences between otic and follicular melanocytes. © 2012 John Wiley & Sons A/S.
Christina Ni; Deming Zhang; Lisa A Beyer; Karin E Halsey; Hideto Fukui; Yehoash Raphael; David F Dolan; Thomas J Hornyak
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-1
Journal Detail:
Title:  Pigment cell & melanoma research     Volume:  -     ISSN:  1755-148X     ISO Abbreviation:  Pigment Cell Melanoma Res     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101318927     Medline TA:  Pigment Cell Melanoma Res     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, 20982, USA.
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