Non-Syndromic X-Linked Mental Retardation
Renpenning syndrome
Sutherland-Haan syndrome
cerebropalatocardiac (Hamel) syndrome

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 population¹. Recently, mutations in the PQBP1 gene have been found in association with both non-syndromic XLMR and syndromic XLMR: i) Renpenning syndrome (mental retardation with short stature, moderate microcephaly, but no remarkable facies and no other neurologic abnormalities); ii) Sutherland-Haan syndrome (mental retardation, short stature, microcephaly, brachycephaly, spastic diplegia, small testes, and possibly intrauterine growth retardation); iii) Cerebropalatocardiac (Hamel) syndrome (severe mental retardation with congenital heart defects, microcephaly, spasticity, short stature, cleft or highly arched palate, and other craniofacial abnormalities)^2,3 and iv) Golabi-Ito-Hall syndrome ( mental retardation, microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect⁴.

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

PQBP1 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. Kalscheuer VM, et al. Nat Genet. 2003 Dec;35(4):313-5.
3. Lenski C, et al. Am J Hum Genet. 2004 Apr;74(4):777-80.
4. Lubs H. et al. (2006) J Med Genet. 43:e30.

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