{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T16:44:16Z","timestamp":1791477856021,"version":"4.3.4"},"reference-count":80,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental &amp; Craniofacial Research of the National Institutes of Health","doi-asserted-by":"publisher","award":["R03DE027497"],"award-info":[{"award-number":["R03DE027497"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental &amp; Craniofacial Research of the National Institutes of Health","doi-asserted-by":"publisher","award":["P20GM121342"],"award-info":[{"award-number":["P20GM121342"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000072","name":"National Institute of Dental &amp; Craniofacial Research of the National Institutes of Health","doi-asserted-by":"publisher","award":["#1942178"],"award-info":[{"award-number":["#1942178"]}],"id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["R03DE027497"],"award-info":[{"award-number":["R03DE027497"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["P20GM121342"],"award-info":[{"award-number":["P20GM121342"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","award":["#1942178"],"award-info":[{"award-number":["#1942178"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"name":"NSF\/IOS","award":["R03DE027497"],"award-info":[{"award-number":["R03DE027497"]}]},{"name":"NSF\/IOS","award":["P20GM121342"],"award-info":[{"award-number":["P20GM121342"]}]},{"name":"NSF\/IOS","award":["#1942178"],"award-info":[{"award-number":["#1942178"]}]},{"name":"Clemson University College of Behavioral, Social, and Health Sciences Impact Grant","award":["R03DE027497"],"award-info":[{"award-number":["R03DE027497"]}]},{"name":"Clemson University College of Behavioral, Social, and Health Sciences Impact Grant","award":["P20GM121342"],"award-info":[{"award-number":["P20GM121342"]}]},{"name":"Clemson University College of Behavioral, Social, and Health Sciences Impact Grant","award":["#1942178"],"award-info":[{"award-number":["#1942178"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Phelan\u2013McDermid syndrome (PMS) is a multisystem disorder that is associated with deletions of the 22q13 genomic region or pathogenic variants in the SHANK3 gene. Notable features include developmental issues, absent or delayed speech, neonatal hypotonia, seizures, autism or autistic traits, gastrointestinal problems, renal abnormalities, dolichocephaly, and both macro- and microcephaly. Assessment of the genetic factors that are responsible for abnormal head size in PMS has been hampered by small sample sizes as well as a lack of attention to these features. Therefore, this study was conducted to investigate the relationship between head size and genes on chromosome 22q13. A review of the literature was conducted to identify published cases of 22q13 deletions with information on head size to conduct a pooled association analysis. Across 56 studies, we identified 198 cases of PMS with defined deletion sizes and head size information. A total of 33 subjects (17%) had macrocephaly, 26 (13%) had microcephaly, and 139 (70%) were normocephalic. Individuals with macrocephaly had significantly larger genomic deletions than those with microcephaly or normocephaly (p &lt; 0.0001). A genomic region on 22q13.31 was found to be significantly associated with macrocephaly with CELSR1, GRAMD4, and TBCD122 suggested as candidate genes. Investigation of these genes will aid the understanding of head and brain development.<\/jats:p>","DOI":"10.3390\/genes14030540","type":"journal-article","created":{"date-parts":[[2023,2,22]],"date-time":"2023-02-22T03:59:16Z","timestamp":1677038356000},"page":"540","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Head Size in Phelan\u2013McDermid Syndrome: A Literature Review and Pooled Analysis of 198 Patients Identifies Candidate Genes on 22q13"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1625-7404","authenticated-orcid":false,"given":"Sara M.","family":"Sarasua","sequence":"first","affiliation":[{"name":"Healthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane M.","family":"DeLuca","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis","family":"Rogers","sequence":"additional","affiliation":[{"name":"Greenwood Genetic Center, Greenville, SC 29605, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katy","family":"Phelan","sequence":"additional","affiliation":[{"name":"Florida Cancer Specialists & Research Institute, Fort Myers, FL 33908, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lior","family":"Rennert","sequence":"additional","affiliation":[{"name":"Department of Public Health Sciences, Clemson University, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7415-4262","authenticated-orcid":false,"given":"Kara E.","family":"Powder","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences, Clemson University, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Weisensee","sequence":"additional","affiliation":[{"name":"Department of Sociology, Anthropology and Criminal Justice, Clemson University, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2017-4270","authenticated-orcid":false,"given":"Luigi","family":"Boccuto","sequence":"additional","affiliation":[{"name":"Healthcare Genetics and Genomics Program, Clemson University School of Nursing, Clemson, SC 29634, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J., Gripp, K.W., Mirzaa, G.M., and Amemiya, A. 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