{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T19:32:19Z","timestamp":1778009539050,"version":"3.51.4"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    DDX3X is a multifunctional ATP\u2010dependent RNA helicase involved in several processes of RNA metabolism and in other biological pathways such as cell cycle control, innate immunity, apoptosis and tumorigenesis. Variants in\n                    <jats:italic>DDX3X<\/jats:italic>\n                    have been associated with a developmental disorder named intellectual developmental disorder, X\u2010linked syndromic, Snijders Blok type (MRXSSB, MIM #300958) or DDX3X neurodevelopmental disorder (DDX3X\u2010NDD). DDX3X\u2010NDD is mainly characterized by intellectual disability, brain abnormalities, hypotonia and behavioral problems. Other common findings include gastrointestinal abnormalities, abnormal gait, speech delay and microcephaly. DDX3X\u2010NDD is predominantly found in females who carry de novo variants in\n                    <jats:italic>DDX3X<\/jats:italic>\n                    . However, hemizygous pathogenic\n                    <jats:italic>DDX3X<\/jats:italic>\n                    variants have been also found in males who inherited their variants from unaffected mothers. To date, more than 200 patients have been reported in the literature. Here, we describe 34 new patients with a variant in\n                    <jats:italic>DDX3X<\/jats:italic>\n                    and reviewed 200 additional patients previously reported in the literature. This article describes 34 additional patients to those already reported, contributing with 25 novel variants and a deep phenotypic characterization. A clinical review of our cohort of DDX3X\u2010NDD patients is performed comparing them to those previously published.\n                  <\/jats:p>","DOI":"10.1111\/cge.14440","type":"journal-article","created":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T02:49:27Z","timestamp":1698720567000},"page":"140-149","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic and phenotypic findings in 34 novel Spanish patients with\n                    <scp>\n                      <i>DDX3X<\/i>\n                    <\/scp>\n                    neurodevelopmental disorder"],"prefix":"10.1111","volume":"105","author":[{"given":"Alejandro","family":"Parra","sequence":"first","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Pascual","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Cazalla","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Arias","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Gallego\u2010Zazo","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esteban A.","family":"San\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"Unidad de Gen\u00e9tica Adultos Hospital Guillermo Grant Benavente  Concepci\u00f3n Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Silv\u00e1n","sequence":"additional","affiliation":[{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"Unidad de Diagn\u00f3stico Molecular y Gen\u00e9tica Cl\u00ednica Hospital Universitario Son Espases, Idisba  Palma de Mallorca Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Spanish OverGrowth Registry Initiative (SOGRI)","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juli\u00e1n","family":"Nevado","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jair","family":"Tenorio\u2010Castano","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6324-4825","authenticated-orcid":false,"given":"Pablo","family":"Lapunzina","sequence":"additional","affiliation":[{"name":"Group U753 CIBERER, Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras  Madrid Spain"},{"name":"INGEMM\u2010Idipaz Institute of Medical and Molecular Genetics  Madrid Spain"},{"name":"ITHACA, European Reference Network Hospital Universitario La Paz  Madrid 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