Waardenburg syndrome type 2A

Common Name(s)

Waardenburg syndrome type 2A

Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by {13:Read and Newton, 1997} and {12:Pingault et al., 2010}). Waardenburg syndrome type 2A is caused by mutation in the MITF gene ({156845}). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; {193500}) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III (WS3; {148820}) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; {277580}), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by {13:Read and Newton, 1997} and {12:Pingault et al., 2010}). Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B ({600193}) has been mapped to chromosome 1p, WS2C ({606662}) has been mapped to chromosome 8p23, WSD ({608890}) is caused by mutation in the SNAI2 gene ({602150}) on chromosome 8q11, and WS2E ({611584}) is caused by mutation in the SOX10 gene ({602229}) on chromosome 22q13.
 

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Condition Specific Organizations

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

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Scientific Literature

Articles from the PubMed Database

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The terms "Waardenburg syndrome type 2A" returned 1 free, full-text research articles on human participants. First 3 results:

Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A.
 

Author(s): Y Nobukuni, A Watanabe, K Takeda, H Skarka, M Tachibana

Journal: Am. J. Hum. Genet.. 1996 Jul;59(1):76-83.

 

Waardenburg syndrome type 2 (WS2) is a dominantly inherited disorder characterized by a pigmentation anomaly and hearing impairment due to lack of melanocyte. Previous work has linked a subset of families with WS2 (WS2A) to the MITF gene that encodes a transcription factor with a ...

Last Updated: 1 Aug 1996

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