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Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter ( SLC6A8 ) mutation
Author(s) -
Battini Roberta,
Chilosi Anna,
Mei Davide,
Casarano Manuela,
Alessandrì M. Grazia,
Leuzzi Vincenzo,
Ferretti Giovanni,
Tosetti Michela,
Bianchi M. Cristina,
Cioni Giovanni
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31827
Subject(s) - mutation , medicine , transporter , genetics , psychology , neuroscience , biology , gene
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. © 2007 Wiley‐Liss, Inc.