Waardenburg syndrome type 2

Common Name(s)

Waardenburg syndrome type 2

Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes.  About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf.   Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Waardenburg syndrome type 2" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Waardenburg syndrome type 2" returned 10 free, full-text research articles on human participants. First 3 results:

Anisometropic amblyopia in a case of type 2 Waardenburg syndrome.
 

Author(s): Ali Akal, Tugba Göncü, Nurefsan Boyaci, Ömer Faruk Yılmaz

Journal:

 

This study presents a case of an 8-year-old boy with iris heterochromia and anisometropic amblyopia who was diagnosed with Waardenburg syndrome (WS) type 2. An ophthalmic examination revealed iris heterochromia and anisometropic amblyopia in our patient. In the systemic examination, ...

Last Updated: 19 Dec 2013

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Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2.
 

Author(s): Hua Zhang, Hunjin Luo, Hongsheng Chen, Lingyun Mei, Chufeng He, Lu Jiang, Jia-Da Li, Yong Feng

Journal: FEBS Lett.. 2012 Nov;586(23):4126-31.

 

MITF mutations results in an abnormal melanocyte development and lead to Waardenburg syndrome type 2 (WS2). Here, we analyzed the in vitro activities of two recently identified WS2-associated MITF mutations (p.R217I and p.T192fsX18). The R217I MITF retained partial activity, normal ...

Last Updated: 23 Nov 2012

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Hearing dysfunction in heterozygous Mitf(Mi-wh) /+ mice, a model for Waardenburg syndrome type 2 and Tietz syndrome.
 

Author(s): Christina Ni, Deming Zhang, Lisa A Beyer, Karin E Halsey, Hideto Fukui, Yehoash Raphael, David F Dolan, Thomas J Hornyak

Journal: Pigment Cell Melanoma Res. 2013 Jan;26(1):78-87.

 

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 ...

Last Updated: 20 Dec 2012

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Reviews from the PubMed Database

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The terms "Waardenburg syndrome type 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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