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Genet."],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>DDX41 (DEAD\u2011box helicase 41) is a member of the largest family of RNA helicases. The DEAD-box RNA helicases share a highly conserved core structure and regulate all aspects of RNA metabolism. The functional role of DDX41 in innate immunity is also highly conserved. DDX41 acts as a sensor of viral DNA and activates the STING-TBK1-IRF3-type I IFN signaling pathway. Germline heterozygous variants in <jats:italic>DDX41<\/jats:italic> have been reported in familial myelodysplasia syndrome (MDS)\/acute myeloid leukemia (AML) patients; most patients also acquired a somatic variant in the second <jats:italic>DDX41<\/jats:italic> allele. Here, we report a patient who inherited compound heterozygous <jats:italic>DDX41<\/jats:italic> variants and presented with bone dysplasia, ichthyosis, and dysmorphic features. Functional analyses of the patient-derived dermal fibroblasts revealed a reduced abundance of DDX41 and abrogated activation of the IFN genes through the STING-type I interferon pathway. Genome-wide transcriptome analyses in the patient\u2019s fibroblasts revealed significant gene dysregulation and changes in the RNA splicing events. The patient\u2019s fibroblasts also displayed upregulation of periostin mRNA expression. Using an RNA binding protein assay, we identified DDX41 as a novel regulator of periostin expression. Our results suggest that functional impairment of DDX41, along with dysregulated periostin expression, likely contributes to this patient\u2019s multisystem disorder.<\/jats:p>","DOI":"10.1007\/s00439-024-02708-8","type":"journal-article","created":{"date-parts":[[2024,10,25]],"date-time":"2024-10-25T06:02:29Z","timestamp":1729836149000},"page":"1445-1457","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Biallelic germline DDX41 variants in a patient with bone dysplasia, ichthyosis, and dysmorphic features"],"prefix":"10.1007","volume":"143","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1165-980X","authenticated-orcid":false,"given":"Prashant","family":"Sharma","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jason R.","family":"McFadden","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F. Graeme","family":"Frost","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas C.","family":"Markello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorothy K.","family":"Grange","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wendy J.","family":"Introne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"May Christine V.","family":"Malicdan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,10,25]]},"reference":[{"key":"2708_CR1","doi-asserted-by":"publisher","first-page":"210","DOI":"10.1002\/jcp.20285","volume":"204","author":"M Abdul-Ghani","year":"2005","unstructured":"Abdul-Ghani M, Hartman KL, Ngsee JK (2005) Abstrakt interacts with and regulates the expression of sorting nexin-2. 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