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Article

Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.

American journal of medical genetics. Part A - 1 Jul 2024

Garber Alison, Weingarten Lisa S, Abreu Nicolas J, Elloumi Houda Zghal, Haack Tobias, Hildebrant Clara, Martínez-Gil Núria, Mathews Jennifer, Müller Amelie Johanna, Valenzuela Palafoll Irene, Steigerwald Connolly, Chung Wendy K

Abstract excerpt

FEZF2 encodes a transcription factor critical to neurodevelopment that regulates other neurodevelopment genes. Rare variants in FEZF2 have previously been suggested to play a role in autism, and cases of 3p14 microdeletions that include FEZF2 share a neurodevelopmental phenotype including mild dysmorphic features and intellectual disability. We identified seven heterozygous predicted deleterious variants in FEZF2...

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PMID: 38425142
DOI: 10.1002/ajmg.a.63578
PMCID: PMC11161304

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