{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:24:00Z","timestamp":1775841840812,"version":"3.50.1"},"reference-count":25,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Guizhou Province Scientific and technological Project","award":["(2016)5670"],"award-info":[{"award-number":["(2016)5670"]}]},{"name":"Guiyang City Scientific and technological Project","award":["(20161001) 35"],"award-info":[{"award-number":["(20161001) 35"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>3\u2010M syndrome is a rare autosomal recessive disorder characterized by primordial growth retardation, large head circumference, characteristic facial features, and mild skeletal changes, which is associated with the exclusive variants in three genes, namely <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, and <jats:italic>CCDC8<\/jats:italic>. Only a few 3\u2010M syndrome patients have been reported in Chinese population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Children with unexplained severe short stature, facial dysmorphism, and normal intelligence in two Chinese families and their relatives were enrolled. Trio\u2010whole\u2010exome sequencing (trio\u2010WES) and pathogenicity prediction analysis were conducted on the recruited patients. A conservative analysis of the mutant amino acid sequences and function prediction analysis of the wild\u2010type (WT) and mutant CUL7 protein were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a homozygous missense variant (NM_014780.4: c.4898C\u00a0&gt;\u00a0T, p.Thr1633Met) in <jats:italic>CUL7<\/jats:italic> gene in a 6\u2010month\u2010old female infant from a non\u2010consanguineous family, and a homozygous frameshift variant (NM_014780.4: c.3722_3749 dup GGCTGGCACAGCTGCAGCAATGCCTGCA, p. Val1252Glyfs*23) in <jats:italic>CUL7<\/jats:italic> gene in two affected siblings from a consanguinity family. These two variants may affect the properties and structure of CUL7 protein.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>These two rare variants were observed in Chinese population for the first time and have not been reported in the literature. Our findings expand the variant spectrum of 3\u2010M syndrome in Chinese population and provide valuable insights into the early clinical manifestations and pathogenesis of 3\u2010M syndrome for pediatricians and endocrinologists.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.23265","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T12:49:40Z","timestamp":1583498980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of two <i>CUL7<\/i> variants in two Chinese families with 3\u2010M syndrome by whole\u2010exome sequencing"],"prefix":"10.1002","volume":"34","author":[{"given":"Li","family":"Hu","sequence":"first","affiliation":[{"name":"School of Medicine Guizhou University Guiyang China"},{"name":"Prenatal Diagnosis Center Guizhou Provincial People's Hospital Guiyang 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