{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T09:12:23Z","timestamp":1780564343887,"version":"3.54.1"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T00:00:00Z","timestamp":1694736000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Aym\u00e9\u2010Gripp Syndrome (AGS) is an ultra\u2010rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in <jats:italic>MAF<\/jats:italic> have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6\u2010year\u2010old girl carrying a de novo missense pathogenic variant in <jats:italic>MAF<\/jats:italic>, being the first case reported to show a milder phenotype with no cataracts and deafness displayed. Furthermore, we performed a systematic review of previously published cases, focusing on clinical manifestation and genotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.63406","type":"journal-article","created":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:10:47Z","timestamp":1694779847000},"page":"70-76","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["An atypical <scp>Aym\u00e9\u2010Gripp<\/scp> phenotype detected by exome sequencing"],"prefix":"10.1002","volume":"194","author":[{"given":"Martina","family":"Caiazza","sequence":"first","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alberto","family":"Budillon","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Monda","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giustina","family":"Aruta","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Augusto","family":"Esposito","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Del Vecchio Blanco","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9418-125X","authenticated-orcid":false,"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[{"name":"Department of Precision Medicine University of Campania \u201cLuigi Vanvitelli\u201d  Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine (TIGEM)  Pozzuoli Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gioacchino","family":"Scarano","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"},{"name":"U.O.S.D. Genetica Medica, A.O.R.N. San Pio  Benevento Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8291-9517","authenticated-orcid":false,"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[{"name":"Inherited and Rare Cardiovascular Diseases Unit, Department of Translational Medical Sciences University of Campania \u201cLuigi Vanvitelli\u201d, Monaldi Hospital  Naples Italy"},{"name":"Institute of Cardiovascular Science University College London and St. Bartholomew's Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,9,15]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61299"},{"key":"e_1_2_11_3_1","first-page":"1993","volume-title":"GeneReviews","author":"Amudhavalli S. M.","year":"2020"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38832"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23395"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199601000-00008"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62053"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960202)61:4<382::AID-AJMG14>3.0.CO;2-O"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-017-0414-7"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-021-01026-6"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31990"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62540"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200207000-00009"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13651"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.03.001"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62947"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.21037\/tp-21-286"},{"key":"e_1_2_11_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.01.003"}],"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.63406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T07:33:34Z","timestamp":1706513614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,15]]},"references-count":18,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/ajmg.a.63406"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63406","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,9,15]]},"assertion":[{"value":"2023-05-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-09-15","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}