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Article

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

International journal of molecular sciences - 8 Jan 2022

Dawidziuk Mateusz, Kutkowska-Kazmierczak Anna, Bukowska-Olech Ewelina, Jurek Marta, Kalka Ewa, Guilbride Dorothy Lys, Furmanek Mariusz Ireneusz, Bekiesinska-Figatowska Monika, Bal Jerzy, Gawlinski Pawel

Abstract excerpt

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (β-actin) or ACTG1...

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Identifiers

PMID: 35054877
DOI: 10.3390/ijms23020692
PMCID: PMC8776155

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De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.PMID 35054877Read ↗

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Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial Syndrome with a variant in <i>ACTB</i>Semantic proximity Read ↗

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Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).Semantic proximity Read ↗

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