{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:34:53Z","timestamp":1786977293413,"version":"build-2736575974"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,14]],"date-time":"2024-04-14T00:00:00Z","timestamp":1713052800000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The 15q11\u2013q13 region is a genetic locus with genes subject to genomic imprinting, significantly influencing neurodevelopment. Genomic imprinting is an epigenetic phenomenon that causes differential gene expression based on the parent of origin. In most diploid organisms, gene expression typically involves an equal contribution from both maternal and paternal alleles, shaping the phenotype. Nevertheless, in mammals, including humans, mice, and marsupials, the functional equivalence of parental alleles is not universally maintained. Notably, during male and female gametogenesis, parental alleles may undergo differential marking or imprinting, thereby modifying gene expression without altering the underlying DNA sequence. Neurodevelopmental disorders, such as Prader\u2013Willi syndrome (PWS) (resulting from the absence of paternally expressed genes in this region), Angelman syndrome (AS) (associated with the absence of the maternally expressed\n                      <jats:italic>UBE3A<\/jats:italic>\n                      gene), and 15q11\u2013q13 duplication syndrome (resulting from the two common forms of duplications\u2014either an extra isodicentric 15 chromosome or an interstitial 15 duplication), are the outcomes of genetic variations in this imprinting region.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Conducted a genomic study to identify the frequency of pathogenic variants impacting the 15q11\u2013q13 region in an ethnically homogenous population from Bangladesh. Screened all known disorders from the DECIPHER database and identified variant enrichment within this cohort. Using the Horizon analysis platform, performed enrichment analysis, requiring at least &gt;60% overlap between a copy number variation and a disorder breakpoint. Deep clinical phenotyping was carried out through multiple examination sessions to evaluate a range of clinical symptoms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>This study included eight individuals with clinically suspected PWS\/AS, all previously confirmed through chromosomal microarray analysis, which revealed chromosomal breakpoints within the 15q11\u2013q13 region. Among this cohort, six cases (75%) exhibited variable lengths of deletions, whereas two cases (25%) showed duplications. These included one type 2 duplication, one larger atypical duplication, one shorter type 2 deletion, one larger type 1 deletion, and four cases with atypical deletions. Furthermore, thorough clinical assessments led to the diagnosis of four PWS patients, two AS patients, and two individuals with 15q11\u2013q13 duplication syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our deep phenotypic observations identified a spectrum of clinical features that overlap and are unique to PWS, AS, and Dup15q syndromes. Our findings establish genotype\u2013phenotype correlation for patients impacted by variable structural variations within the 15q11\u2013q13 region.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.3437","type":"journal-article","created":{"date-parts":[[2024,4,15]],"date-time":"2024-04-15T00:19:36Z","timestamp":1713140376000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11\u2013q13 imprinting region"],"prefix":"10.1002","volume":"14","author":[{"given":"Rabeya Akter","family":"Mim","sequence":"first","affiliation":[{"name":"Genetics and Genomic Medicine Centre (GGMC) NeuroGen Healthcare  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anjana","family":"Soorajkumar","sequence":"additional","affiliation":[{"name":"Center for Applied and Translational Genomics (CATG) Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Kosaji","sequence":"additional","affiliation":[{"name":"Center for Applied and Translational Genomics (CATG) Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Mizanur","family":"Rahman","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Bangabandhu Sheikh Mujib Medical University  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shaoli","family":"Sarker","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Centre (GGMC) NeuroGen Healthcare  Dhaka Bangladesh"},{"name":"Bangladesh Shishu Hospital and Institute  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9836-0316","authenticated-orcid":false,"given":"Noushad","family":"Karuvantevida","sequence":"additional","affiliation":[{"name":"Center for Applied and Translational Genomics (CATG) Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health  Dubai UAE"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamannyat Binte","family":"Eshaque","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Centre (GGMC) NeuroGen Healthcare  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Md Atikur","family":"Rahaman","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Centre (GGMC) NeuroGen Healthcare  Dhaka Bangladesh"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amirul","family":"Islam","sequence":"additional","affiliation":[{"name":"Genetics and Genomic Medicine Centre (GGMC) NeuroGen Healthcare  Dhaka Bangladesh"},{"name":"GenomeArc Inc.  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