Mutations in

Humans Female Pedigree Optic Nerve Diseases / genetics Mutation Methyltransferases / genetics Child Mitochondria / genetics Adult
NSUN3 inherited optic neuropathy optic atrophy

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
24 Apr 2024
Historique:
received: 18 03 2024
revised: 12 04 2024
accepted: 20 04 2024
medline: 25 5 2024
pubmed: 25 5 2024
entrez: 25 5 2024
Statut: epublish

Résumé

Inherited optic neuropathies (IONs) are rare genetic diseases characterized by progressive visual loss due the atrophy of optic nerves. The standard diagnostic workup involving next-generation sequencing panels has a diagnostic yield of about forty percent. In the other 60% of the patients with a clinical diagnosis of ION, the underlying genetic variants remain unknown. In this case study, we describe a potentially new disease-associated gene,

Identifiants

DOI: 10.3390/genes15050530 PMID: 38790159
pubmed: 38790159
pii: genes15050530
doi: 10.3390/genes15050530
pii:
doi:

Substances chimiques

Methyltransferases EC 2.1.1.-

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Bartimeus Fonds
ID : 1219277

Auteurs

Cansu de Muijnck (C)

Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Department of Ophthalmology, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
ORCID: 0000-0003-0161-5851

Jacoline B Ten Brink (JBT)

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
ORCID: 0000-0001-7884-0067

Hugoline G de Haan (HG)

Department of Human Genetics, Amsterdam University Medical Centers, Location VU, 1081 HV Amsterdam, The Netherlands.
Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centers, 1105 AZ Amsterdam, The Netherlands.

Richard J Rodenburg (RJ)

Radboud Center for Mitochondrial Medicine, Departments of Pediatrics and Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
ORCID: 0000-0001-5227-3527

Nicole I Wolf (NI)

Department of Child Neurology, Emma Children's Hospital, Amsterdam University Medical Centers, Location VU, 1105 AZ Amsterdam, The Netherlands.
ORCID: 0000-0003-1721-0728

Arthur A Bergen (AA)

Department of Human Genetics, Section Ophthalmogenetics, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
Emma Centre for Precision Medicine, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.

Camiel J F Boon (CJF)

Department of Ophthalmology, Amsterdam University Medical Centers, Location AMC, 1105 AZ Amsterdam, The Netherlands.
Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands.

Maria M van Genderen (MM)

Department of Ophthalmology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands.
Bartiméus Diagnostic Center for Complex Visual Disorders, 3703 AJ Zeist, The Netherlands.
ORCID: 0000-0002-9286-8397

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Classifications MeSH

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