Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated for Angelman syndrome and in two XLMR families with epilepsy and ataxia, including the family designated as having Christianson syndrome. Therefore, mutations in SLC9A6 cause X-linked mental retardation. Additionally, males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations.

A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. Cancer Res 62:359-362 Zink D, Mayr C, Janz C, Wiesmü ller L (2002) Association of p53 and MSH2 with recombinative repair complexes during S phase. Oncogene 21:4788-4800

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The ApoE epsilon4-allele constitutes an independent risk factor for cognitive impairment at 13 months post-stroke, and is associated with progression of cognitive decline in tasks related to verbal learning and memory.