Am J Med Genet A. 2007 Aug 1;143A(15):1771-4.

Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation.

Battini R, Chilosi A, Mei D, Casarano M, Alessandrì MG, Leuzzi V, Ferretti G, Tosetti M, Bianchi MC, Cioni G.

Source

Department of Developmental Neuroscience, IRCCS Stella Maris, Calambrone, Pisa, Italy.

Abstract

We report on a 9.5-year-old Italian boy affected by creatine transporter deficit (CT1), due to a de novo mutation in SLC6A8 gene. The patient was investigated by means of a comprehensive neuropsychological protocol and presented with an unusual alteration of speech and expressive-language function, associated with mental retardation, that differed from CT1 patients described to date. In particular, he exhibited a developmental apraxia of speech (DAS) with motor planning and execution deficit, while receptive language was consistent with his mental age.

PMID:: 17603797; [PubMed - indexed for MEDLINE]

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Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene. [Mol Genet Metab. 2011]
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