{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T06:44:12Z","timestamp":1776321852421,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T00:00:00Z","timestamp":1681689600000},"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":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pathogenic variants in <jats:italic>TRAF7<\/jats:italic> are often de novo and features of individuals harboring these variants are characterized by neurodevelopmental delay, ptosis, cardiac defects, limb anomalies, and dysmorphic features. We present a familial case in two African American patients with a novel, likely pathogenic c.1936G&gt;A variant in <jats:italic>TRAF7<\/jats:italic>. Patient 1 is a 31\u2010year\u2010old female with a patent ductus arteriosus (PDA), intellectual disability, ptosis, and other dysmorphic features. She was identified to harbor this likely pathogenic variant in a mosaic (33.89%) state in leukocytes. Her son, Patient 2, is a 10\u2010month\u2010old male with a PDA, atrial septal defect, ptosis, developmental delay, history of feeding difficulties, congenital maxillary frenulum, and malrotation of the intestine. He has the same variant in a non\u2010mosaic state. These cases demonstrate the variable expressivity observed with variants in <jats:italic>TRAF7<\/jats:italic> within the same family and expand upon current understanding of mosaic <jats:italic>TRAF7<\/jats:italic> variants. They also provide phenotypic data on genetic variation in individuals with African American ancestry, a population who has been underrepresented in the literature and may be less frequently referred to genetic specialists.<\/jats:p>","DOI":"10.1002\/ajmg.a.63214","type":"journal-article","created":{"date-parts":[[2023,4,17]],"date-time":"2023-04-17T13:34:29Z","timestamp":1681738469000},"page":"1990-1993","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Novel mosaic <scp><i>TRAF7<\/i><\/scp> likely pathogenic variant in an African American family"],"prefix":"10.1002","volume":"191","author":[{"given":"Jack A.","family":"Colleran","sequence":"first","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily C.","family":"Daykin","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy","family":"Hernandez","sequence":"additional","affiliation":[{"name":"University of Texas MD Anderson Cancer Center UTHealth Houston Graduate School of Biomedical Sciences  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph","family":"Ray","sequence":"additional","affiliation":[{"name":"School of Medicine University of Texas Medical Branch  Galveston Texas USA"},{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9108-5884","authenticated-orcid":false,"given":"Megan","family":"Morand","sequence":"additional","affiliation":[{"name":"School of Medicine University of Texas Medical Branch  Galveston Texas USA"},{"name":"Division of Medical Genetics and Metabolism, Department of Pediatrics University of Texas Medical Branch  Galveston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,4,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdr2.1711"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-019-05359-w"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncb1086"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0792-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/oncolo\/oyab082"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sigtrans.2017.23"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.708717"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jgc4.1250"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.06.005"},{"key":"e_1_2_7_11_1","unstructured":"Traf7[gene] \u2013 ClinVar \u2013 NCBI. (2022). Retrieved June 23 2022 fromhttps:\/\/www.ncbi.nlm.nih.gov\/clinvar\/?term=traf7%5Bgene%5D&redir=gene"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41420-021-00749-w"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.cr.7290105"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.25676"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63214","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T02:49:35Z","timestamp":1722394175000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63214"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,4,17]]},"references-count":13,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2023,7]]}},"alternative-id":["10.1002\/ajmg.a.63214"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63214","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,4,17]]},"assertion":[{"value":"2022-11-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-07","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-04-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}