{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T13:25:05Z","timestamp":1791984305909,"version":"4.4.0"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T00:00:00Z","timestamp":1578960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Italian Ministry of Education, University and Research","award":["Dipartimenti di Eccellenza (2018-2022)"],"award-info":[{"award-number":["Dipartimenti di Eccellenza (2018-2022)"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Missense variants in <jats:italic>HNRNPH2<\/jats:italic> cause Bain type syndromic X\u2010linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the phenotype has yet to be delineated in detail. Here, we report on a 35\u2010year\u2010old female with a novel <jats:italic>de novo<\/jats:italic> variant in <jats:italic>HNRNPH2<\/jats:italic>, providing further evidence that missense changes in the nuclear localization sequence cause Bain type XLID and that aminoacid 206 likely represents a mutational hotspot. We expand the phenotype of Bain type XLID to include breathing, sleep and movement disorders, cerebellar vermis hypoplasia, stereotypies, and hypersensitivity to noise. Our data indicate that the phenotype may be broader and more variable than initially reported, and suggest Rett syndrome as a possible differential diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61486","type":"journal-article","created":{"date-parts":[[2020,1,14]],"date-time":"2020-01-14T12:44:08Z","timestamp":1579005848000},"page":"823-828","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":19,"title":["Missense variants in the Arg206 residue of <i>HNRNPH2<\/i>: Further evidence of causality and expansion of the phenotype"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1769-6548","authenticated-orcid":false,"given":"Angela","family":"Peron","sequence":"first","affiliation":[{"name":"Child Neuropsychiatry Unit \u2010 Epilepsy Center San Paolo Hospital  Milan Italy"},{"name":"Department of Health Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"},{"name":"Department of Pediatrics, Division of Medical Genetics University of Utah School of Medicine  Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Novara","sequence":"additional","affiliation":[{"name":"Microgenomics srl  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"La Briola","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit \u2010 Epilepsy Center San Paolo Hospital  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Merati","sequence":"additional","affiliation":[{"name":"Child Neuropsychiatry Unit \u2010 Epilepsy Center San Paolo Hospital  Milan Italy"},{"name":"Department of Health Sciences Universit\u00e0 degli Studi di Milano  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuela","family":"Giannusa","sequence":"additional","affiliation":[{"name":"Microgenomics srl  Pavia 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