{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T10:01:30Z","timestamp":1780308090474,"version":"3.54.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"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":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Interstitial deletions involving 3q27.1 define a distinct microdeletion syndrome characterized by prenatal\u2010onset growth restriction, postnatal microcephaly, hypotonia, intellectual disability, and distinctive craniofacial features. While\n                    <jats:italic>AP2M1<\/jats:italic>\n                    haploinsufficiency has been proposed as the primary driver of this phenotype, the full spectrum of dosage\u2010sensitive genes within the locus remains unclear. Here, we report a patient with a de novo heterozygous 3q27.1 microdeletion and delineate a refined minimal smallest region of overlap (SRO) of approximately 189\u2009kb, representing the narrowest critical interval associated with the 3q27.1 microdeletion phenotype to date. Chromosomal microarray and exome\u2010based CNV analysis confirmed the deletion, which encompasses\n                    <jats:italic>PSMD2<\/jats:italic>\n                    ,\n                    <jats:italic>EIF4G1<\/jats:italic>\n                    , and\n                    <jats:italic>POLR2H<\/jats:italic>\n                    but excludes\n                    <jats:italic>AP2M1<\/jats:italic>\n                    and\n                    <jats:italic>DVL3<\/jats:italic>\n                    . The patient exhibited severe intrauterine growth restriction, microcephaly, global developmental delay, and mild dysmorphism, consistent with the established 3q27.1 phenotype.\n                    <jats:italic>PSMD2<\/jats:italic>\n                    encodes a non\u2010ATPase regulatory subunit of the 26S proteasome, and its loss may disrupt proteasome\u2010mediated protein turnover and neuronal homeostasis. Comparison with previously published cases and an overlapping ClinVar variant (ID: 60129) with similar features supports the pathogenicity of this minimal deletion. Our findings refine the 3q27.1 critical region, propose\n                    <jats:italic>PSMD2<\/jats:italic>\n                    haploinsufficiency as a likely molecular mechanism underlying growth and neurodevelopmental defects. Further cases and functional studies are needed to confirm\n                    <jats:italic>PSMD2<\/jats:italic>\n                    causality and clarify the proteasome\u2010related mechanisms underlying 3q27.1 microdeletion syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70097","type":"journal-article","created":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T08:56:25Z","timestamp":1773132985000},"page":"1601-1607","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates\n                    <i>PSMD2<\/i>\n                    Haploinsufficiency in Growth and Neurodevelopmental Abnormalities"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1820-9094","authenticated-orcid":false,"given":"Eyyup","family":"Uctepe","sequence":"first","affiliation":[{"name":"Acibadem Labgen Genetic Diagnosis Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fatma Nisa","family":"Esen","sequence":"additional","affiliation":[{"name":"Acibadem Labgen Genetic Diagnosis Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2338-5436","authenticated-orcid":false,"given":"Hanifenur","family":"Mancilar","sequence":"additional","affiliation":[{"name":"Acibadem Labgen Genetic Diagnosis Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sait","family":"T\u00fcmer","sequence":"additional","affiliation":[{"name":"Acibadem Labgen Genetic Diagnosis Center  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fahri","family":"Celebi","sequence":"additional","affiliation":[{"name":"Department of Psychology Dogus University, Faculty of Arts and Sciences  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmet","family":"Yesilyurt","sequence":"additional","affiliation":[{"name":"Acibadem Labgen Genetic Diagnosis Center  Istanbul Turkey"},{"name":"Acibadem Maslak Hospital  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,3,10]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039\u2010022\u201000587\u20100"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000075"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.08.009"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gendis.2023.101130"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.12.007"},{"key":"e_1_2_10_7_1","unstructured":"Ellard S. 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