{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:16:09Z","timestamp":1790694969966,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T00:00:00Z","timestamp":1589500800000},"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":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Pathogenic variants in\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    were first reported in 2018. The reported individual, a 13 year old boy with a c.616C&gt;T (p.R206W) variant in the\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    gene, was noted to have overlapping symptoms with those observed in\n                    <jats:italic>HNRNPH2\u2010<\/jats:italic>\n                    related X\u2010linked intellectual disability, Bain type (MRXSB), specifically intellectual disability and dysmorphic features. While\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    variants were initially proposed to represent an autosomal cause of MRXSB, we report an additional seven cases which identify phenotypic differences from MRXSB. Patients with\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    pathogenic variants diagnosed via WES were identified using clinical networks and GeneMatcher. Features unique to individuals with\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    variants include distinctive dysmorphic facial features; an increased incidence of congenital anomalies including cranial and brain abnormalities, genitourinary malformations, and palate abnormalities; increased incidence of ophthalmologic abnormalities; and a decreased incidence of epilepsy and cardiac defects compared to those with MRXSB. This suggests that pathogenic variants in\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    result in a related, but distinct syndromic cause of intellectual disability from MRXSB, which we refer to as\n                    <jats:italic>HNRNPH1<\/jats:italic>\n                    \u2010related syndromic intellectual disability.\n                  <\/jats:p>","DOI":"10.1111\/cge.13765","type":"journal-article","created":{"date-parts":[[2020,4,26]],"date-time":"2020-04-26T07:33:20Z","timestamp":1587886400000},"page":"91-98","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["<scp>\n                      <i>HNRNPH1<\/i>\n                    <\/scp>\n                    \u2010related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome"],"prefix":"10.1111","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0965-7506","authenticated-orcid":false,"given":"Sara C.","family":"Reichert","sequence":"first","affiliation":[{"name":"Department of Human and Molecular Genetics Clinical Genetics Services, VCU Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Human and Molecular Genetics Clinical Genetics Services, VCU Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"A. Turner","sequence":"additional","affiliation":[{"name":"Department of Pathology VCU Health  Richmond Virginia USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"van Jaarsveld","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maarten P.G.","family":"Massink","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Jos\u00e9 H.","family":"van den Boogaard","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Utrecht  Utrecht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mireia","family":"del Toro","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Department, Vall d'Hebron University Hospital Universitat Aut\u00f2noma de Barcelona, CIBERER  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agust\u00ed","family":"Rodr\u00edguez\u2010Palmero","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat  Barcelona Catalonia Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Fourcade","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat  Barcelona Catalonia Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Institute Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agatha","family":"Schl\u00fcter","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat  Barcelona Catalonia Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Institute Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Planas\u2010Serra","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat  Barcelona Catalonia Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Institute Carlos III  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurora","family":"Pujol","sequence":"additional","affiliation":[{"name":"Neurometabolic Diseases Laboratory Bellvitge Biomedical Research Institute (IDIBELL), Hospitalet de Llobregat  Barcelona Catalonia Spain"},{"name":"Centre for Biomedical Research on Rare Diseases (CIBERER) Institute Carlos III  Madrid Spain"},{"name":"Catalan Institution for Research and Advanced Studies (ICREA)  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Laboratorio Genetica Medica, ASST Papa Giovanni XXIII  Bergamo Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Maitz","sequence":"additional","affiliation":[{"name":"Clinical Pediatric Genetic Unit, Pediatric Clinic Fondazione MBBM, San Gerardo Hospital  Monza Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy","family":"Loong","sequence":"additional","affiliation":[{"name":"Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust  Oxford UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Stewart","sequence":"additional","affiliation":[{"name":"Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust  Oxford 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