Language disorder with mild intellectual disability in a child affected by a novel mutation of SLC6A8 gene

R. Battini, A. M. Chilosi, M. Casarano, F. Moro, A. Comparini, M. G. Alessandrì, V. Leuzzi, M. Tosetti, G. Cioni

Research output: Contribution to journalArticle

Abstract

We describe the clinical and molecular features of a child harboring a novel mutation in SLC6A8 gene in association with a milder phenotype than other creatine transporter (CT1) deficient patients (OMIM 300352) [1-7]. The mutation c.757 G>C p.G253R in exon 4 of SLC6A8 was hemizygous in the child, aged 6. years and 6. months, who showed mild intellectual disability with severe speech and language delay. His carrier mother had borderline intellectual functioning. Although the neurochemical and biochemical parameters were fully consistent with those reported in the literature for subjects with CT1 deficit, in our patient within a general cognitive disability, a discrepancy between nonverbal and verbal skills was observed, confirming the peculiar vulnerability of language development under brain Cr depletion.

Original languageEnglish
Pages (from-to)153-156
Number of pages4
JournalMolecular Genetics and Metabolism
Volume102
Issue number2
DOIs
Publication statusPublished - Feb 2011

Keywords

  • Creatine metabolism and transport
  • CT1 deficiency
  • Language impairment
  • Mild phenotype
  • SLC6A8 gene mutation
  • XLMR

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

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