/manager/Index ${session.getAttribute("locale")} 5 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes /manager/Repository/uon:10278 T) in two small families with nystagmus and MR. Detailed clinical examinations of all six families, including an ophthalmological review in four families, were undertaken to further characterise the phenotype. We report on the clinical features of 24 individuals, mostly male, from six families with CASK mutations. The phenotype was variable, ranging from non-syndromic mild MR to severe MR associated with microcephaly and dysmorphic facial features. Carrier females were variably affected. Congenital nystagmus was found in members of four of the families. Our findings reinforce the CASK gene as a relatively frequent cause of XLMR in females and males. We further define the phenotypic spectrum and demonstrate that affected males with missense mutations or in-frame deletions in CASK are frequently associated with congenital nystagmus and XLMR, a striking feature not previously reported.]]> Sat 24 Mar 2018 08:09:09 AEDT ]]> SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome /manager/Repository/uon:5320 Sat 24 Mar 2018 07:45:58 AEDT ]]>