{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T07:55:20Z","timestamp":1779177320336,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T00:00:00Z","timestamp":1616371200000},"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":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Kenny\u2010Caffey syndrome type 2 (KCS2) and osteocraniostenosis (OCS) are allelic disorders caused by heterozygous pathogenic variants in the <jats:italic>FAM111A<\/jats:italic> gene. Both conditions are characterized by gracile bones, characteristic facial features, hypomineralized skull with delayed closure of fontanelles and hypoparathyroidism. OCS and KCS2 are often referred to as <jats:italic>FAM111A<\/jats:italic>\u2010related syndromes as a group; although OCS presents with a more severe, perinatal lethal phenotype. We report a novel <jats:italic>FAM111A<\/jats:italic> mutation in a fetus with poorly ossified skull, proportionate long extremities with thin diaphysis, and hypoplastic spleen consistent with <jats:italic>FAM111A<\/jats:italic>\u2010related syndromes. Trio whole exome sequencing identified a p.Y562S de novo missense variant in the <jats:italic>FAM111A<\/jats:italic> gene. The variant shows significant similarity to other reported pathogenic mutations fitting proposed pathophysiologic mechanism which provide sufficient evidence for classification as likely pathogenic. Our report contributed a novel variant to the handful of OCS and KCS2 cases reported with pathogenic variants.<\/jats:p>","DOI":"10.1002\/ajmg.a.62182","type":"journal-article","created":{"date-parts":[[2021,3,22]],"date-time":"2021-03-22T13:08:02Z","timestamp":1616418482000},"page":"1903-1907","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Report of a novel variant in the <scp><i>FAM111A<\/i><\/scp> gene in a fetus with multiple anomalies including gracile bones, hypoplastic spleen, and hypomineralized skull"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9799-2135","authenticated-orcid":false,"given":"R\u00e9ka","family":"M\u00fcller","sequence":"first","affiliation":[{"name":"Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology College of Medicine, University of South Florida  Tampa Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thora","family":"Steffensen","sequence":"additional","affiliation":[{"name":"Department of Pathology Tampa General Hospital  Tampa Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nevena","family":"Krsti\u0107","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology College of Medicine, University of South Florida  Tampa Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Ashley","family":"Cain","sequence":"additional","affiliation":[{"name":"Maternal Fetal Medicine Division, Department of Obstetrics and Gynecology College of Medicine, University of South Florida  Tampa Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,22]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13633-016-0041-7"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11547-013-0959-2"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5102"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku340"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.100.1.1"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.30"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<125::AID-AJMG4>3.0.CO;2-S"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31326"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80120-2"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1002949"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.15252\/embr.202050662"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2091"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1966.02090050133013"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441706"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12290"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0939-z"},{"issue":"2","key":"e_1_2_8_18_1","first-page":"149","article-title":"Osteocraniosplenic syndrome\u2010Hypomineralized skull with Gracile long bones and splenic hypoplasia: A case report and literature review","volume":"27","author":"Puvabanditsin S.","year":"2016","journal-title":"Genetic Counseling (Geneva, Switzerland)"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31473"},{"issue":"5","key":"e_1_2_8_21_1","doi-asserted-by":"crossref","first-page":"e471","DOI":"10.1097\/SCS.0000000000006439","article-title":"Kenny\u2010Caffey syndrome type 2: A unique presentation and craniofacial analysis","volume":"31","author":"Turner A. 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