{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,14]],"date-time":"2026-03-14T05:12:56Z","timestamp":1773465176090,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T00:00:00Z","timestamp":1765152000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T00:00:00Z","timestamp":1765152000000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Rahman syndrome (\n                    <jats:italic>HIST1H1E<\/jats:italic>\n                    \u2010related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal\u2010dominant condition caused by truncating variants in the C\u2010terminal domain of the\n                    <jats:italic>HIST1H1E<\/jats:italic>\n                    gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies. Although multisystem involvement has been increasingly described, respiratory manifestations remain sparsely documented. We report a female infant with mosaic\n                    <jats:italic>HIST1H1E<\/jats:italic>\n                    truncation (c.435dupC; p.Thr146Hisfs*50) who presented with severe mixed sleep apnea secondary to laryngomalacia, requiring two airway surgeries and multidisciplinary management. Despite surgical intervention, polysomnography demonstrated persistent mixed apneas, suggesting both structural and central components. Brain MRI revealed nonspecific ischemic changes that could contribute to the neurological phenotype. To contextualize this observation, we reviewed 70 published cases of Rahman syndrome. Respiratory involvement was reported in only 13.5% (neonatal respiratory distress), 2.8% (upper\u2010airway anomalies), and 1.4% (sleep\u2010disordered breathing), frequencies comparable to those in the general population, although most reports lacked systematic respiratory evaluation. These findings suggest that respiratory morbidity may be under\u2010evaluated rather than absent in Rahman syndrome. The combination of\n                    <jats:italic>hypotonia<\/jats:italic>\n                    , craniofacial restriction, and possible brain\u2010stem dysregulation provides a plausible pathophysiologic substrate for both central and obstructive apnea. We recommend considering airway assessment and polysomnography in affected individuals presenting with stridor, desaturations, or sleep\u2010related breathing difficulties. This case further expands the phenotypic spectrum of\n                    <jats:italic>HIST1H1E<\/jats:italic>\n                    \u2010related disorders and represents the first documented example of mosaicism associated with this condition.\n                  <\/jats:p>","DOI":"10.1002\/ajmga.70011","type":"journal-article","created":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T12:39:13Z","timestamp":1765197553000},"page":"937-946","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Respiratory Involvement in\n                    <i>HIST1H1E<\/i>\n                    \u2010Related Rahman Syndrome: A Case of Severe Mixed Apnea"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-1196-5805","authenticated-orcid":false,"given":"Nada","family":"Barakat","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Montreal  Montreal Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjolaine","family":"Champagne","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medical Genetics CHU Ste\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mathieu","family":"Bergeron","sequence":"additional","affiliation":[{"name":"Department of Pediatric Otolaryngology \u2010 Head and Neck Surgery CHU Ste\u2010Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philippe","family":"Dodin","sequence":"additional","affiliation":[{"name":"CHU Sainte Justine Research Institute, CHU Sainte Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nadia","family":"Roumeliotis","sequence":"additional","affiliation":[{"name":"CHU Sainte Justine Research Institute, CHU Sainte Justine  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,12,8]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/2211\u20105463.13750"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11845\u2010021\u201002557\u20108"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.galenos.2025.2025\u20103\u201025"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000541189"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61321"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13148\u2010019\u20100804\u20100"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32631"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.07.007"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1183\/20734735.000716"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12470"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.5370"},{"key":"e_1_2_13_13_1","first-page":"347","article-title":"Rahman Syndrome Caused by HIST1H1E Gene Mutation: A Case Report and Literature Review (in Chinese With English Abstract)","volume":"5","author":"Li Y.","year":"2020","journal-title":"Journal of Clinical Pediatrics"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1017\/s104795112100473x"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/mcd.0000000000000352"},{"issue":"20","key":"e_1_2_13_16_1","first-page":"2769","article-title":"Current Status of Neonatal Acute Respiratory Disorders: A One\u2010Year Prospective Survey From a Chinese Neonatal Network","volume":"123","author":"Qian L.","year":"2010","journal-title":"Chinese Medical 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