{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T02:54:30Z","timestamp":1782528870759,"version":"3.54.5"},"reference-count":17,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T00:00:00Z","timestamp":1677715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT223718\/Z\/21\/Z"],"award-info":[{"award-number":["WT223718\/Z\/21\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004856","name":"New York State Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health and Care Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","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":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>To delineate further the clinical phenotype of Lamb\u2013Shaffer Syndrome (LSS) <jats:italic>16 unpublished patients with heterozygous variation in SOX5<\/jats:italic> were identified either through the UK Decipher database or the study team was contacted by clinicians directly. Clinical phenotyping tables were completed for each patient by their responsible clinical geneticist. Photos and clinical features were compared to assess key phenotypes and genotype\u2013phenotype correlation. We report 16 <jats:italic>SOX5<\/jats:italic> variants all of which meet American College of Medical Genetics\/Association for Clinical Genomic Science ACMG\/ACGS criteria class IV or V. 7\/16 have intragenic deletions of <jats:italic>SOX5<\/jats:italic> and 9\/16 have single nucleotide variants (including both truncating and missense variants). The cohort includes two sets of monozygotic twins and parental gonadal mosaicism is noted in one family. This cohort of 16 patients is compared with the 71 previously reported cases and corroborates previous phenotypic findings. As expected, the most common findings include global developmental delay with prominent speech delay, mild to moderate intellectual disability, behavioral abnormalities and sometimes subtle characteristic facial features. We expand in more detail on the behavioral phenotype and observe that there is a greater tendency toward lower growth parameters and microcephaly in patients with single nucleotide variants. This cohort provides further evidence of gonadal mosaicism in <jats:italic>SOX5<\/jats:italic> variants; this should be considered when providing genetic counseling for couples with one affected child and an apparently de novo variant.<\/jats:p>","DOI":"10.1002\/ajmg.a.63124","type":"journal-article","created":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T13:27:30Z","timestamp":1677763650000},"page":"1447-1458","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["<scp><i>SOX5<\/i><\/scp>: <scp>Lamb\u2013Shaffer<\/scp> syndrome\u2014A case series further expanding the phenotypic spectrum"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8260-3010","authenticated-orcid":false,"given":"Katharine","family":"Edgerley","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics University Hospitals Bristol and Weston NHS Foundation Trust  Bristol 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