{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T23:15:25Z","timestamp":1773443725881,"version":"3.50.1"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T00:00:00Z","timestamp":1555113600000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>3M syndrome is characterized by severe pre\u2010 and postnatal growth retardation, typical facial features, and normal intelligence. Homozygous or compound heterozygous mutations in either <jats:italic>CUL7<\/jats:italic>, <jats:italic>OBSL1<\/jats:italic>, or <jats:italic>CCDC8<\/jats:italic> have been identified in the etiology so far. Clinical and molecular features of 24 patients (23 patients and a fetus) from 19 unrelated families with a clinical diagnosis of 3M syndrome were evaluated and genotype\u2013phenotype correlations were investigated with the use of DNA sequencing, chromosomal microarray, and whole exome sequencing accordingly. A genetic etiology could be established in 20 patients (<jats:italic>n<\/jats:italic>\u2009=\u200920\/24, 83%). Eleven distinct <jats:italic>CUL7<\/jats:italic> or <jats:italic>OBSL1<\/jats:italic> mutations, among which eight was novel, were identified in 18 patients (<jats:italic>n<\/jats:italic>\u2009=\u200918\/24, 75%). Ten patients had <jats:italic>CUL7<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200910\/18, 56%) while eight had <jats:italic>OBSL1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20098\/18, 44%) mutations. Birth weight and height standard deviation scores at admission were significantly (<jats:italic>p<\/jats:italic>\u2009&lt;\u20090.05) lower in patients with <jats:italic>CUL7<\/jats:italic> mutation compared to that of patients with <jats:italic>OBSL1<\/jats:italic> mutation. Two patients with a similar phenotype had a de novo 20p13p deletion involving <jats:italic>BMP2<\/jats:italic>. No genetic etiology could be established in four patients (<jats:italic>n<\/jats:italic>\u2009=\u20094\/28, 17%). This study yet represents the largest cohort of 3M syndrome patients from a single center in Turkey. Microdeletions involving <jats:italic>BMP2<\/jats:italic> may cause a phenotype similar to 3M syndrome with some distinctive features. Larger cohort of patients are required to establish genotype\u2013phenotype correlations in 3M syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61154","type":"journal-article","created":{"date-parts":[[2019,4,13]],"date-time":"2019-04-13T09:00:51Z","timestamp":1555146051000},"page":"1157-1172","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Further expanding the mutational spectrum and investigation of genotype\u2013phenotype correlation in 3M syndrome"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin Ozlem","family":"Simsek\u2010Kiper","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6040-6625","authenticated-orcid":false,"given":"Ekim","family":"Taskiran","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Can","family":"Kosukcu","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Bioinformatics Hacettepe University Institute of Health Sciences  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Umut Ece","family":"Arslan","sequence":"additional","affiliation":[{"name":"Department of Health Research Institute of Public Health, Hacettepe University  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Cormier\u2010Daire","sequence":"additional","affiliation":[{"name":"Department of Genetics INSERM UMR 1163, Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9, Institut Imagine, AP\u2010HP, H\u00f4pital Necker Enfants Malades  Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nazl\u0131","family":"Gonc","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alev","family":"Ozon","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayfer","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nurgun","family":"Kandemir","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gulen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Pediatric Genetics Acibadem University Faculty of Medicine  Istanbul Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Alikasifoglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Medical Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koray","family":"Boduroglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"},{"name":"Department of Medical Genetics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,4,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34009"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37365"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2012.04428.x"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1530\/EDM-15-0012"},{"issue":"4","key":"e_1_2_7_6_1","first-page":"271","article-title":"Familial dwarfism with disproportionately high vertebral bodies","volume":"16","author":"Fuhrmann W.","year":"1971","journal-title":"Humangenetik"},{"key":"e_1_2_7_7_1","doi-asserted-by":"crossref","unstructured":"Hanson D. 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