Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

doi:10.1136/jmg-2023-109203

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Article

Further characterisation of ARX-related disorders in females due to inherited or de novo variants.

Journal of medical genetics - 19 Jan 2024

Gras Mathilde, Heide Solveig, Keren Boris, Valence Stéphanie, Garel Catherine, Whalen Sandra, Jansen Anna C, Keymolen Kathelijn, Stouffs Katrien, Jennesson Mélanie, Poirsier Céline, Lesca Gaetan, Depienne Christel, Nava Caroline, Rastetter Agnès, Curie Aurore, Cuisset Laurence, Des Portes Vincent, Milh Mathieu, Charles Perrine, Mignot Cyril, Héron Delphine

Abstract excerpt

The Aristaless-related homeobox (ARX) gene is located on the X chromosome and encodes a transcription factor that is essential for brain development. While the clinical spectrum of ARX-related disorders is well described in males, from X linked lissencephaly with abnormal genitalia syndrome to syndromic and non-syndromic intellectual disability (ID), its phenotypic delineation in females is incomplete. Carrier...

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PMID: 37879892
DOI: 10.1136/jmg-2023-109203

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