{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T09:18:13Z","timestamp":1764494293519,"version":"3.41.2"},"reference-count":4,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T00:00:00Z","timestamp":1698624000000},"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":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Bi\u2010allelic variants in AFG2B<\/jats:italic> (previously known as SPATA5L1<\/jats:italic>) have recently been associated with a neurodevelopmental disorder with hearing loss and spasticity, as well as isolated hearing loss. We report on a 6 1\/2\u2010year\u2010old girl with a history of global developmental delay, subsequent intellectual disability without relevant language acquisition, sensorineural hearing loss, muscular hypotonia and microcephaly.<\/jats:p><\/jats:sec>Methods<\/jats:title>We performed trio exome sequencing on the patient and her parents.<\/jats:p><\/jats:sec>Results<\/jats:title>Trio exome sequencing revealed likely pathogenic compound heterozygous missense variants in AFG2B<\/jats:italic> [c.527G>T, p.(Gly176Val) and c.1313T>C, p.(Leu438Pro)] in the patient.<\/jats:p><\/jats:sec>Conclusion<\/jats:title>Of note, the change c.1313T>C, p.(Leu438Pro) has been observed in a previously published patient as part of a complex disease allele along with a second homozygous missense change, so the exact contribution of the two alterations to this patient's disease had initially remained unclear. Our results support the pathogenic relevance of the c.1313T>C, p.(Leu438Pro) allele while providing detailed insights into the disease manifestation of a further patient.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2310","type":"journal-article","created":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T12:40:08Z","timestamp":1698669608000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A further case of AFG2B<\/i>\u2010related neurodevelopmental disorder with hearing loss and microcephaly allows further clarification of pathogenicity of the variant c.1313T>C, p.(Leu438Pro)"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-1956-3487","authenticated-orcid":false,"given":"Sarah","family":"Grosch","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Kehrer","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Bevot","sequence":"additional","affiliation":[{"name":"Department of Neuropediatrics, Developmental Neurology and Social Pediatrics University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics and Applied Genomics University of T\u00fcbingen T\u00fcbingen Germany"},{"name":"Centre for Rare Diseases University of T\u00fcbingen T\u00fcbingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,10,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203442"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2022.110597"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.08.003"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2310","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,29]],"date-time":"2024-01-29T12:23:06Z","timestamp":1706530986000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2310"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,30]]},"references-count":4,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1002\/mgg3.2310"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2310","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"type":"print","value":"2324-9269"},{"type":"electronic","value":"2324-9269"}],"subject":[],"published":{"date-parts":[[2023,10,30]]},"assertion":[{"value":"2023-05-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-30","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2310"}}