{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T01:38:07Z","timestamp":1785634687833,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T00:00:00Z","timestamp":1733788800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>ASH1L<\/jats:italic>\n                    gene encodes a histone lysine methyltransferase, highly expressed in both embryonic and adult human brain. De novo loss\u2010of\u2010function variants in\n                    <jats:italic>ASH1L<\/jats:italic>\n                    are described in an ultrarare monogenic neurodevelopmental disorder, previously called mental retardation type 52 (MRD52). At the same time, a few cases are reported in the literature and DECIPHER with 1q22 microdeletions spanning\n                    <jats:italic>ASH1L<\/jats:italic>\n                    . We report three siblings presenting non\u2010syndromic intellectual disability (ID) and an\n                    <jats:italic>ASH1L<\/jats:italic>\n                    intragenic deletion extending from exons 2 to 12 detected at SNP\u2010array. Both parents resulted noncarrier suggesting gonadal\/gonosomal mosaicism in one of the parents. This observation restricted the smallest region of overlap of the 1q22 microdeletion to\n                    <jats:italic>ASH1L<\/jats:italic>\n                    , and allowed to consider MRD52 and 1q22 microdeletion the same\n                    <jats:italic>ASH1L<\/jats:italic>\n                    \u2010related neurodevelopmental disorder. We also reported the first example of gonadal\/gonosomal mosaicism for an\n                    <jats:italic>ASH1L<\/jats:italic>\n                    deleterious variant, a fact that should generate the suspicion of recurrence also in sporadic cases of\n                    <jats:italic>ASH1L<\/jats:italic>\n                    \u2010related neurodevelopmental disorder.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.63960","type":"journal-article","created":{"date-parts":[[2024,12,10]],"date-time":"2024-12-10T06:24:54Z","timestamp":1733811894000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Gonadal Mosaicism for an\n                    <i>ASH1L<\/i>\n                    Intragenic Deletion Makes a Bridge Between\n                    <scp>MRD52<\/scp>\n                    and 1q22 Microdeletion"],"prefix":"10.1002","volume":"197","author":[{"given":"Ester","family":"Di Muro","sequence":"first","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Petracca","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6069-0993","authenticated-orcid":false,"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6583-3482","authenticated-orcid":false,"given":"Orazio","family":"Palumbo","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,12,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.115.131516"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15040423"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbagen.2015.05.013"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.11.013"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2021.136241"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3182217a3a"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13185"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38193"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes11060707"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467\u2010021\u201026972\u20108"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm3230"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.05.003"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3792"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010020\u201000483\u20105"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63960","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T05:34:44Z","timestamp":1765517684000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63960"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,10]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,4]]}},"alternative-id":["10.1002\/ajmg.a.63960"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63960","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,10]]},"assertion":[{"value":"2024-10-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-21","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-10","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63960"}}