Alport syndrome and mental retardation: clinical and genetic dissection of the contiguous gene deletion syndrome in Xq22.3 (ATS-MR)

[...]we have further characterised the new contiguous gene syndrome in Xq22.3, which we propose to call ATS-MR; this adds to the previously known contiguous gene syndrome in this region, ATS-DL (Alport syndrome and diffuse leiomyomatosis). [...]search for additional patients with the ATS-MR contiguous gene syndrome will be necessary in order to verify the real frequency of this condition. [...]we have defined a critical region for MR, containing four candidate genes, FACL4, KCNE5, NXT2, and GUCY2F.