| http://purl.uniprot.org/citations/35054877 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35054877 | http://www.w3.org/2000/01/rdf-schema#comment | "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 (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness. Both ACTG1-related non-syndromic A20/A26 deafness and B-WS diagnoses are characterized by hypervariable penetrance in phenotype. Here, we identify a 28th patient worldwide carrying a mutated γ-actin ACTG1 allele, with mildly manifested cerebrofrontofacial B-WS traits, hypervariable penetrance of developmental traits and sensorineural hearing loss. This patient also displays brachycephaly and a complete absence of speech faculty, previously unreported for ACTG1-related B-WS or DFNA20/26 deafness, representing phenotypic expansion. The patient's exome sequence analyses (ES) confirms a de novo ACTG1 variant previously unlinked to the pathology. Additional microarray analysis uncover no further mutational basis for dual molecular diagnosis in our patient. We conclude that γ-actin c.542C > T, p.Ala181Val is a dominant pathogenic variant, associated with mildly manifested facial and cerebral traits typical of B-WS, hypervariable penetrance of developmental traits and sensorineural deafness. We further posit and present argument and evidence suggesting ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.org/dc/terms/identifier | "doi:10.3390/ijms23020692"xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Gawlinski P."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Kutkowska-Kazmierczak A."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Bukowska-Olech E."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Bekiesinska-Figatowska M."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Dawidziuk M."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Bal J."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Jurek M."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Guilbride D.L."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Kalka E."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/author | "Furmanek M.I."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/name | "Int J Mol Sci"xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/pages | "692"xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/title | "De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome."xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://purl.uniprot.org/core/volume | "23"xsd:string |
| http://purl.uniprot.org/citations/35054877 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35054877 |
| http://purl.uniprot.org/citations/35054877 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/35054877 |
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| http://purl.uniprot.org/uniprot/#_B4DVQ0-mappedCitation-35054877 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35054877 |
| http://purl.uniprot.org/uniprot/#_P63261-mappedCitation-35054877 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35054877 |
| http://purl.uniprot.org/uniprot/#_Q562L5-mappedCitation-35054877 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35054877 |
| http://purl.uniprot.org/uniprot/#_Q562L6-mappedCitation-35054877 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35054877 |