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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Coffin-Siris syndrome


Other Names for this Disease
  • Fifth digit syndrome
  • Intellectual disability with absent fifth fingernail and terminal phalanx
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Cause


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What causes Coffin-Siris syndrome?

Coffin-Siris syndrome is caused by a change (mutation) in either the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Exactly how these gene mutations result in the symptoms of Coffin-Siris syndrome is not known, however it is thought that the mutations affect how genetic material is packaged in the cell.

Coffin-Siris syndrome is an autosomal dominant condition; as only one gene mutation is needed to cause the syndrome. It usually occurs for the first time in a family due to a new mutation. 

In some cases, no genetic mutation can be identified and the cause of Coffin-Siris syndrome in the family remains unknown.[1]
Last updated: 9/13/2013

References
  1. Coffin-Siris Syndrome. Genetics Home Reference. May 2013; http://www.ghr.nlm.nih.gov/condition/coffin-siris-syndrome. Accessed 9/13/2013.