A loss‐of‐function mutation in the <i>SLC9A6</i> gene causes X‐linked mental retardation resembling Angelman syndrome

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<jats:title>Abstract</jats:title><jats:p><jats:italic>SLC9A6</jats:italic> mutations have been reported in families in whom X‐linked mental retardation (XMR) mimics Angelman syndrome (AS). However, the relative importance of <jats:italic>SLC9A6</jats:italic> mutations in patients with an AS‐like phenotype or XMR has not been fully investigated. Here, the involvement of <jats:italic>SLC9A6</jats:italic> mutations in 22 males initially suspected to have AS but found on genetic testing not to have AS (AS‐like cohort), and 104 male patients with XMR (XMR cohort), was investigated. A novel <jats:italic>SLC9A6</jats:italic> mutation (c.441delG, p.S147fs) was identified in one patient in the AS‐like cohort, but no mutation was identified in XMR cohort, suggesting mutations in <jats:italic>SLC9A6</jats:italic> are not a major cause of the AS‐like phenotype or XMR. The patient with the <jats:italic>SLC9A6</jats:italic> mutation showed the typical AS phenotype, further demonstrating the similarity between patients with AS and those with <jats:italic>SLC9A6</jats:italic> mutations. To clarify the effect of the <jats:italic>SLC9A6</jats:italic> mutation, we performed RT‐PCR and Western blot analysis on lymphoblastoid cells from the patient. Expression of the mutated transcript was significantly reduced, but was restored by cycloheximide treatment, indicating the presence of nonsense mediated mRNA decay. Western blot analysis demonstrated absence of the normal NHE6 protein encoded for by <jats:italic>SLC9A6</jats:italic>. Taken together, these findings indicate a loss‐of‐function mutation in <jats:italic>SLC9A6</jats:italic> caused the phenotype in our patient. © 2011 Wiley‐Liss, Inc.</jats:p>

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