{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:18:49Z","timestamp":1753888729094,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007270","name":"University of Michigan","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007270","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":[[2022,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Multilocus imprinting disturbances (MLID) have been associated with up to 12% of patients with Beckwith\u2010Wiedemann syndrome, Silver\u2010Russell syndrome, and pseudohypoparathyroidism type 1B (PHP1B). Single\u2010gene defects affecting components of the subcortical maternal complex (SCMC) have been reported in cases with multilocus hypomethylation defects. We present a patient with speech and language impairment with mild Angelman syndrome (AS) features who demonstrates maternal hypomethylation at 15q11.2 (<jats:italic>SNRPN<\/jats:italic>) as well as 11p15.5 (<jats:italic>KCNQ1OT1<\/jats:italic>) imprinted loci, but normal methylation at 6q24.2 (<jats:italic>PLAGL1<\/jats:italic>), 7p12.1 (<jats:italic>GRB10<\/jats:italic>), 7q32.2 (<jats:italic>MEST<\/jats:italic>), 11p15.5 (<jats:italic>H19<\/jats:italic>), 14q32.2 (<jats:italic>MEG3<\/jats:italic>), 19q13.43 (<jats:italic>PEG3<\/jats:italic>), and 20q13.32 (<jats:italic>GNAS<\/jats:italic> and <jats:italic>GNAS\u2010AS1<\/jats:italic>). The proband also has no copy number nor sequence variants within the AS imprinting center or in <jats:italic>UBE3A<\/jats:italic>. Maternal targeted next generation sequencing did not identify any pathogenic variants in <jats:italic>ZPF57<\/jats:italic>, <jats:italic>NLRP2<\/jats:italic>, <jats:italic>NLRP5<\/jats:italic>, <jats:italic>NLRP7<\/jats:italic>, <jats:italic>KHDC3L<\/jats:italic>, <jats:italic>PADI6<\/jats:italic>, <jats:italic>TLE6<\/jats:italic>, <jats:italic>OOEP<\/jats:italic>, <jats:italic>UHRF1<\/jats:italic> or <jats:italic>ZAR1<\/jats:italic>. The presence of very delayed, yet functional speech, behavioral difficulties, EEG abnormalities but without clinical seizures, and normocephaly are consistent with the 15q11.2 hypomethylation defect observed in this patient. To our knowledge, this is the first report of MLID in a patient with mild, likely mosaic, Angelman syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.62752","type":"journal-article","created":{"date-parts":[[2022,4,2]],"date-time":"2022-04-02T04:55:01Z","timestamp":1648875301000},"page":"2209-2216","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0024-6513","authenticated-orcid":false,"given":"Marwan K.","family":"Tayeh","sequence":"first","affiliation":[{"name":"Department of Medical and Molecular Genetics, Division of Indiana, University Genetics Testing Laboratories Indiana University  Indianapolis Indiana USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janean","family":"DeVaul","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristin","family":"LeSueur","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan USA"},{"name":"Department of Pathology University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jirair K.","family":"Bedoyan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetic and Genomic Medicine University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peedikayil","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark C.","family":"Hannibal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4335-1014","authenticated-orcid":false,"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Genetics, Metabolism and Genomic Medicine University of Michigan  Ann Arbor Michigan USA"},{"name":"Department of Human Genetics University of Michigan  Ann Arbor Michigan 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