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Article

A likely pathogenic ACTG1 variant in a child showing partial phenotypic overlap with Baraitser-Winter syndrome.

American journal of medical genetics. Part A - 1 Jun 2023

Graziani Ludovico, Cinnirella Giacomo, Ferradini Valentina, Conte Chiara, Bascio Federica Lo, Bengala Mario, Sangiuolo Federica, Novelli Giuseppe

Abstract excerpt

Baraitser-Winter syndrome (BRWS) is a rare autosomal dominant disease (AD) caused by heterozygous variants in ACTB (BRWS1) or ACTG1 (BRWS2) genes. BRWS features developmental delay/intellectual disability of variable degree and craniofacial dysmorphisms. Brain abnormalities (especially pachygyria), microcephaly, epilepsy, as well as hearing impairment, cardiovascular and genitourinary abnormalities may be...

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PMID: 36810952
DOI: 10.1002/ajmg.a.63157

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