{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,11]],"date-time":"2025-12-11T03:21:30Z","timestamp":1765423290735},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T00:00:00Z","timestamp":1636934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2022,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Angelman syndrome (AS) (OMIM#105830) is an imprinting disorder caused due to alterations in the maternal chr 15q11\u201013 region. Majority of cases can be diagnosed by methylation\u2010specific polymerase chain reaction (MS\u2010PCR) of <jats:italic>SNRPN<\/jats:italic> gene and by <jats:italic>UBE3A<\/jats:italic> sequencing, however, about 10% of cases with AS phenotype remain undiagnosed. Differential diagnoses of AS can be detected by chromosomal microarray (CMA) and clinical exome sequencing (CES). In this study, 30 cases with AS features were evaluated by MS\u2010PCR, CMA, and CES. <jats:italic>SNRPN<\/jats:italic> MS\u2010PCR confirmed AS in eight (26%), CMA and CES diagnosed nine (30%) cases. One case was identified with a novel variant c.1125C\u00a0&gt;\u00a0T in <jats:italic>GABRG3<\/jats:italic>, located at 15q12 region, which is currently not associated with any syndrome. The <jats:italic>GABRG3<\/jats:italic> gene is also speculated to be imprinted, a MS\u2010PCR assay was designed to confirm its differential parental methylation status. This assay identified another case with altered <jats:italic>GABRG3<\/jats:italic> methylation. The two cases with <jats:italic>GABRG3<\/jats:italic> alteration\u2014sequence change and methylation indicate that <jats:italic>GABRG3<\/jats:italic> may be associated with a subtype of AS or a new related syndrome. Performing <jats:italic>GABRG3<\/jats:italic> MS\u2010PCR and sequencing of a larger group of patients with AS phenotype and normal <jats:italic>SNPRN<\/jats:italic> and <jats:italic>UBE3A<\/jats:italic> status will help in establishing exact genotype\u2014phenotype correlation.<\/jats:p>","DOI":"10.1111\/ahg.12449","type":"journal-article","created":{"date-parts":[[2021,11,15]],"date-time":"2021-11-15T10:23:56Z","timestamp":1636971836000},"page":"71-79","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Expanding the clinico\u2010molecular spectrum of Angelman syndrome phenotype with the <i>GABRG3<\/i> gene: Evidence from methylation and sequencing studies"],"prefix":"10.1111","volume":"86","author":[{"given":"Gayatri R.","family":"Iyer","sequence":"first","affiliation":[{"name":"Department of Genetics &amp; Molecular Medicine Kamineni Hospitals  Hyderabad Telangana India"},{"name":"Department of Genetics Osmania University  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Prashant","family":"Utage","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Kamineni Hospitals  Hyderabad Telangana India"},{"name":"Department of Pediatric Neurology Utage Child Development Center  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Radha Rama","family":"Devi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics \u2010 Rainbow Hospitals  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiran Kumar","family":"Vattam","sequence":"additional","affiliation":[{"name":"Department of Genomics &amp; Molecular Diagnostics, Sandor Specialty Diagnostics  Hyderabad Telangana India"},{"name":"Department of Cytogenetics, Sandor Speciality Diagnostics  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qurratulain","family":"Hasan","sequence":"additional","affiliation":[{"name":"Department of Genetics &amp; Molecular Medicine Kamineni Hospitals  Hyderabad Telangana India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,11,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S57386"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2016.133"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815\u2010009\u20109353\u20103"},{"key":"e_1_2_11_5_1","volume-title":"Angelman syndrome.","author":"Dagli A. 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