Other Names for this Disease
- Angelman-like syndrome x-linked
- Mental retardation microcephaly epilepsy and ataxia syndrome
- Mental retardation x-linked syndromic Christianson type
- MRXS Christianson
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Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome. Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome. There appears to be a range of phenotypes in carrier females, from intellectual disability to absence of symptoms.
Last updated: 1/26/2015
In 1999, Christianson et al. described a 5-generation South African family with X-linked mental retardation, comprising 16 affected males and 10 carrier females. In 2008, Gilfillan et al. reported 3 additional families with the disorder: a Norwegian family with 3 affected males; a Swedish family with 1 affected son; and a family from the United Kingdom with 3 affected boys. In 2010, Schroer et al. reported a large family with 6 additional confirmed cases.
Last updated: 1/22/2015
- Mental Retardation, X-Linked, Syndromic, Christianson Type. Online Mendelian Inheritance in Man (OMIM). November 29, 2012; http://omim.org/entry/300243. Accessed 1/22/2015.
- Gilfillan GD, Selmer KK, Roxrud I, Smith R, Kyllerman M, Eiklid K, Kroken M, Mattingsdal M, Egeland T, Stenmark H, Sjøholm H, Server A, Samuelsson L, Christianson A, Tarpey P, Whibley A, Stratton MR, Futreal PA, Teague J, Edkins S, Gecz J, Turner G, Raymond FL, Schwartz C, Stevenson RE, Undlien DE, Strømme P. Am J Hum Genet. 2008; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427207/?tool=pubmed. Accessed 1/6/2010.
- Intellectual deficit, X-linked, South African type. Orphanet. 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85278. Accessed 1/6/2010.