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A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.

Metabolic brain disease - 1 Oct 2022

Dos Santos Suely Rodrigues, Piergiorge Rafael Mina, Rocha Jady, Abdala Bianca Barbosa, Gonçalves Andressa Pereira, Pimentel Márcia Mattos Gonçalves, Santos-Rebouças Cíntia Barros

Abstract excerpt

Yin and Yang 1 gene (YY1; MIM#600,013) is recognized as a dual transcriptional activating and repressing factor, RNA-binding protein, and 3D chromatin regulator, with multi roles in neurodevelopmental and maintenance pathways. YY1 haploinsufficiency caused either by heterozygous sequence variants or deletions involving the whole gene has been recently associated with Gabriele-de Vries syndrome (GADEVS), a rare...

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PMID: 35829845
DOI: 10.1007/s11011-022-01024-2

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