{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T05:34:45Z","timestamp":1792733685278,"version":"4.5.0"},"reference-count":29,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T00:00:00Z","timestamp":1617321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"publisher","award":["INSERM-LGO-JMR"],"award-info":[{"award-number":["INSERM-LGO-JMR"]}],"id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase (MCAT) gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel MCAT mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20. This presentation is consistent with a Leber hereditary optic neuropathy (LHON)-like phenotype, whose existence and association with NDUFS2 and DNAJC30 has only recently been described. Our findings reveal a wider phenotypic presentation of MCAT mutations, and a greater genetic heterogeneity of nuclear LHON-like phenotypes. Although MCAT pathological variants are very uncommon, this gene should be investigated in HON patients, irrespective of disease presentation.<\/jats:p>","DOI":"10.3390\/genes12040521","type":"journal-article","created":{"date-parts":[[2021,4,2]],"date-time":"2021-04-02T10:34:09Z","timestamp":1617359649000},"page":"521","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy"],"prefix":"10.3390","volume":"12","author":[{"given":"Sylvie","family":"Gerber","sequence":"first","affiliation":[{"name":"Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2585-2114","authenticated-orcid":false,"given":"Christophe","family":"Orssaud","sequence":"additional","affiliation":[{"name":"Unit\u00e9 Ophtalmologie, H\u00f4pital Europ\u00e9en Georges-Pompidou (HEGP), and Centre de R\u00e9f\u00e9rence des Maladies Rares en Ophtalmologie (OPHTARA), Service d\u2019Ophtalmologie, H\u00f4pital Necker\u2013Enfants Malades, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josseline","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7431-3208","authenticated-orcid":false,"given":"Catrine","family":"Johansson","sequence":"additional","affiliation":[{"name":"Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, University of Oxford, Oxford OX3 7LD, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7951-7886","authenticated-orcid":false,"given":"Jean-Michel","family":"Rozet","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,4,2]]},"reference":[{"key":"ref_1","unstructured":"Adam, M.P., Ardinger, H.H., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Mirzaa, G., and Amemiya, A. 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