MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy
| Autor: | Josseline Kaplan, Catrine Johansson, Sylvie Gerber, Jean-Michel Rozet, Christophe Orssaud |
|---|---|
| Přispěvatelé: | Genetics in Ophthalmology (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Oxford [Oxford], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), University of Oxford, Université Paris Cité, Equipe HAL |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
genetic structures lcsh:QH426-470 [SDV]Life Sciences [q-bio] Case Report Optic neuropathy 03 medical and health sciences 0302 clinical medicine Genetics Medicine MCAT Gene Pathological Genetics (clinical) ComputingMilieux_MISCELLANEOUS business.industry Genetic heterogeneity NDUFS2 nuclear LHON-like medicine.disease Phenotype eye diseases 3. Good health [SDV] Life Sciences [q-bio] lcsh:Genetics 030104 developmental biology Central visual loss Disease Presentation business 030217 neurology & neurosurgery hereditary optic neuropathy (HON) |
| Zdroj: | Genes, Vol 12, Iss 521, p 521 (2021) Genes Genes, MDPI, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩ Genes, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩ |
| ISSN: | 2073-4425 |
| DOI: | 10.3390/genes12040521⟩ |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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