{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T04:08:31Z","timestamp":1788754111182,"version":"build-2803163510"},"reference-count":43,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T00:00:00Z","timestamp":1788652800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,9,6]],"date-time":"2026-09-06T00:00:00Z","timestamp":1788652800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J intellect Disabil Res"],"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation.\n DHX30<\/jats:italic>\n \u2010related NDD (\n DHX30<\/jats:italic>\n \u2010NDD) is a recently described condition with an evolving phenotypic spectrum.\n <\/jats:p>\n <\/jats:sec>\n \n Objectives<\/jats:title>\n \n To expand the understanding of the\n DHX30<\/jats:italic>\n \u2010NDD genotype\u2013phenotype spectrum by integrating a case\u2010based WES interpretation with a scoping review.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We performed comprehensive genetic analysis (karyotyping, microarray, WES) on a proband with global developmental delay (GDD). A systematic literature search of PubMed\/MEDLINE, Scopus and Google Scholar from database inception to April 2026 identified 10 publications including 51 individuals with\n DHX30<\/jats:italic>\n \u2010NDD. Clinical and genetic data were extracted to characterize the genotype\u2013phenotype spectrum.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The proband presented with GDD and right microtia, harbouring a de novo heterozygous pathogenic\n DHX30<\/jats:italic>\n missense variant (c.1478G\u2009>\u2009A; p.Arg493His), confirming\n DHX30<\/jats:italic>\n \u2010NDD. To our knowledge, this is the first reported individual with\n DHX30<\/jats:italic>\n \u2010NDD and microtia. The scoping review confirmed\n DHX30<\/jats:italic>\n variants are formed predominantly de novo and affected both sexes (22 males; 29 females). Hallmark manifestations were motor delay (50\/51; 98.0%), GDD\/ID (48\/49; 98.0%), hypotonia (48\/51; 94.1%), feeding difficulties (38\/51; 74.5%), ataxia (17\/23; 73.9%), abnormal brain imaging (36\/49; 73.5%) and absent expressive language (35\/48; 72.9%). Digital anomalies (31\/51; 60.8%), eye anomalies (28\/51; 54.9%), autistic behaviours (24\/44; 54.5%), sleep disturbances (26\/51; 51.0%), joint hypermobility (25\/51; 49.0%), microcephaly (23\/51; 45.1%) and ear anomalies (22\/51; 43.1%) were also frequent.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This study potentially expands the phenotypic spectrum of\n DHX30<\/jats:italic>\n \u2010NDD, highlights the clinical utility of WES for diagnosing GDD and underscores the importance of ongoing WES reanalysis for evolving variant interpretation.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/jir.70169","type":"journal-article","created":{"date-parts":[[2026,9,7]],"date-time":"2026-09-07T03:39:36Z","timestamp":1788752376000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Clinical Spectrum of\n DHX30<\/i>\n \u2010Related Neurodevelopmental Disorder: A Case Report and a Scoping Review"],"prefix":"10.1111","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9888-0565","authenticated-orcid":false,"given":"Nattaporn","family":"Tassanakijpanich","sequence":"first","affiliation":[{"name":"Child Development Unit, Division of Pediatrics, Faculty of Medicine Prince of Songkla University Songkhla Thailand"},{"name":"Songklanagarind Child Health Institute for Neurodevelopment: Center of Excellence Songklanagarind Hospital Songkhla Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3245-4627","authenticated-orcid":false,"given":"Areerat","family":"Hnoonual","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Unit, Division of Molecular Pathology, Department of Pathology, Faculty of Medicine Prince of Songkla University Songkhla Thailand"},{"name":"Genomic Medicine Center Songklanagarind Hospital Songkhla Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oradawan","family":"Plong\u2010On","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Unit, Division of Molecular Pathology, Department of Pathology, Faculty of Medicine Prince of Songkla University Songkhla Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5022-5361","authenticated-orcid":false,"given":"Pornprot","family":"Limprasert","sequence":"additional","affiliation":[{"name":"Molecular Diagnostics Unit, Division of Molecular Pathology, Department of Pathology, Faculty of Medicine Prince of Songkla University Songkhla Thailand"},{"name":"Genomic Medicine Center Songklanagarind Hospital Songkhla Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,6]]},"reference":[{"key":"e_1_2_11_2_1","article-title":"A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL)","volume":"15","author":"Alomaim M. 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