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Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Clinical genetics - 1 Jan 2024

Pasquetti Domizia, L'Erario Federica Francesca, Marangi Giuseppe, Panfili Arianna, Chiurazzi Pietro, Sonnini Elena, Orteschi Daniela, Alfieri Paolo, Morleo Manuela, Nigro Vincenzo, Zollino Marcella

Abstract excerpt

Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12 -year-old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole...

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PMID: 37558216
DOI: 10.1111/cge.14414

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