Non-Syndromic X-Linked Mental Retardation

Also offered as part of the Non-Syndromic X-Linked Mental Retardation Mutation Analysis Test.

X-linked mental retardation (XLMR) has a prevalence of 2.6 cases per 1,000 in the general population, accounting for over 10% of all cases of mental retardation¹. It is estimated that 2/3 of X-linked mental retardation is non-syndromic (mental retardation without other distinguishing features). Recently, mutations in the JARID1C gene have been found in non-syndromic X-linked mental retardation patients² . This is a novel XLMR gene with relatively high mutation frequency in XLMR patients. Some female carriers may be affected due to non-random X-inactivation. A missense mutation in JARID1c recently was identified in a patient with autism spectrum disorder³.

To open a printable assay summary in a new window, click the link below.

JARID1C Gene Mutation Analysis Assay Summary 
(in portable document format (pdf) which requires Adobe® Acrobat® Reader™ to view or print; download latest version free)

Please submit the Test Request Form (TRF) and the Neuropsychiatric Patient Information Form when ordering this test.

References
1. Stevenson RE, Schwartz CE. Cytogenet Genome Res. 2002;99(1-4):265-75.
2. Jensen LR, et al. Am J Hum Genet. 2005 Feb;76(2):227-36.

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