Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus

Claudia Torniero, Bernardo dalla Bernardina, Francesca Novara, Annalisa Vetro, Ivana Ricca, Francesca Darra, Tiziano Pramparo, Renzo Guerrini, Orsetta Zuffardi

Research output: Contribution to journalArticlepeer-review

Abstract

We report on a new duplication case of 7q11.23, reciprocal of the Williams-Beuren (WB) deletion. The patient, a 13-year-old girl, was ascertained within an array-CGH screening of patients with epilepsy and neuronal migration defects. Similarly to the first reported patient, she showed serious difficulties in expressive language in the absence of severe mental retardation and marked dysmorphic features. Magnetic resonance imaging (MRI) of the brain revealed an abnormal development of the cerebral cortex in the left temporal lobe, which showed a simplified gyral pattern, and increased cortical thickness. This finding, which might explain poor language development, suggests that the WB critical region might harbour a dosage-sensitive gene controlling the molecular machinery of neuronal migration, with regional specificity and lateralization. It will be important to confirm our findings in newly diagnosed patients with dup(7)(q11.23). We expect to detect many more patients with the same duplication using widespread clinical implementation of high-resolution genome analysis.

Original languageEnglish
Pages (from-to)62-67
Number of pages6
JournalEuropean Journal of Human Genetics
Volume15
Issue number1
DOIs
Publication statusPublished - Jan 2007

ASJC Scopus subject areas

  • Genetics(clinical)

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