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 8 free, full-text research articles on human participants. First 3 results:

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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Screening of MITF and SOX10 regulatory regions in Waardenburg syndrome type 2.
 

Author(s): Viviane Baral, Asma Chaoui, Yuli Watanabe, Michel Goossens, Tania Attie-Bitach, Sandrine Marlin, Veronique Pingault, Nadege Bondurand

Journal: PLoS ONE. 2012 ;7(7):e41927.

 

Waardenburg syndrome (WS) is a rare auditory-pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and pigmentation defects. Four subtypes are clinically defined based on the presence or absence of additional symptoms. WS type 2 (WS2) can result from ...

Last Updated: 31 Jul 2012

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Waardenburg syndrome type 2 in an African patient.
 

Author(s): S G H Otman, N I Abdelhamid

Journal: Indian J Dermatol Venereol Leprol. ;71(6):426-7.

 

A thirty six year-old African man, born in the Southern part of Libya, presented with congenital deafness and white forelock, variable-sized hypopigmented, depigmented patches and hyperpigmented islands within the areas of hypomelanosis affecting the upper parts of the trunk, both ...

Last Updated: 5 Jan 2006

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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