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

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.
 

Author(s): Xue-Ping Wang, Ya-Lan Liu, Ling-Yun Mei, Chu-Feng He, Zhi-Jie Niu, Jie Sun, Yu-Lin Zhao, Yong Feng, Hua Zhang

Journal: J. Hum. Genet.. 2018 May;63(5):639-646.

 

Mutation in the gene encoding microphthalmia-associated transcription factor (MITF) lead to Waardenburg syndrome 2 (WS2), an autosomal dominantly inherited syndrome with auditory-pigmentary abnormalities, which is clinically and genetically heterogeneous. Haploinsufficiency may be ...

Last Updated: 31 Dec 1969

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Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2.
 

Author(s): Jie Sun, Ziqi Hao, Hunjin Luo, Chufeng He, Lingyun Mei, Yalan Liu, Xueping Wang, Zhijie Niu, Hongsheng Chen, Jia-Da Li, Yong Feng

Journal: J. Hum. Genet.. 2017 Jul;62(7):703-709.

 

Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence ...

Last Updated: 31 Dec 1969

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Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.
 

Author(s): Celia Zazo Seco, Luciana Serrão de Castro, Josephine W van Nierop, Matías Morín, Shalini Jhangiani, Eva J J Verver, Margit Schraders, Nadine Maiwald, Mieke Wesdorp, Hanka Venselaar, Liesbeth Spruijt, Jaap Oostrik, Jeroen Schoots, , Jeroen van Reeuwijk, Stefan H Lelieveld, Patrick L M Huygen, María Insenser, Ronald J C Admiraal, Ronald J E Pennings, Lies H Hoefsloot, Alejandro Arias-Vásquez, Joep de Ligt, Helger G Yntema, Joop H Jansen, Donna M Muzny, Gerwin Huls, Michelle M van Rossum, James R Lupski, Miguel Angel Moreno-Pelayo, Henricus P M Kunst, Hannie Kremer

Journal: Am. J. Hum. Genet.. 2015 Nov;97(5):647-60.

 

Linkage analysis combined with whole-exome sequencing in a large family with congenital and stable non-syndromic unilateral and asymmetric hearing loss (NS-UHL/AHL) revealed a heterozygous truncating mutation, c.286_303delinsT (p.Ser96Ter), in KITLG. This mutation co-segregated with ...

Last Updated: 31 Dec 1969

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

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