A team of 79 authors representing 18 research groups from Africa, Europe, and North America investigated 208 families with X-linked mental retardation (XLMR) in what the investigators describe as “the largest direct screen for constitutional disease-causing mutations thus far reported” (1). In this extensive resequencing study, the group sequenced 718 of the somewhat more than 800 genes on the X chromosome, and found 1,858 different variants in the coding regions.

This screen identified nine additional genes in which mutations appear to be associated with XLMR, adding approximately 10% to the roughly 80 genes previously implicated in XLMR. Among these new XLMR-related genes are SYP, a protein in the membranes of small synaptic vesicles; ZNF711, a protein with zinc-finger characteristics that presumably interacts like two interlocking combs with another zinc-finger protein; and CASK, a protein kinase in the postsynaptic membrane of CNS synapses.

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