The screening of slc6a8 deficiency among estonian families with x-linked mental retardation
Summary The urinary creatine:creatinine (Cr:Crn) ratio was measured in males from 49 families with a family history compatible with
X-linked mental retardation (XLMR) in order to estimate the prevalence of SLC6A8 deficiency in Estonia. We identified 11 boys from 9 families with an increased urinary Cr:Crn ratio (18%). In three related
boys, a hemizygous missense mutation (c.1271G>A; p.Gly424Asp) was identified. Their mother was heterozygous for the same mutation.
Although many missense mutations have been described, the p.Gly424Asp mutation has not been previously reported. The clinical
expression varied widely among affected males of this family. Patients 1 and 3 had relatively mild clinical expression (mild
mental retardation (MR) and attention deficit disorder), but p…
Source: MedWorm: Autism