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 retardation.¹ It is estimated that 2/3 of X-linked mental retardation is non-syndromic (mental retardation without other distinguishing features). Recently, two publications reported strong evidence that mutations in the methyltransferase gene FTSJ1 cause non-syndromic X-linked mental retardation.^2,3

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

FTSJ1 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. Freude K, et al. Am J Hum Genet. 2004 Aug;75(2):305-9.
3. Ramser J, et al. J Med Genet. 2004 Sep;41(9):679-83.

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