Mutations Cause Nuclear LHON-like Optic Neuropathy

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2021 Apr 30

PMID 33918393

Citations 16

Authors

Sylvie Gerber

Christophe Orssaud

Josseline Kaplan

Catrine Johansson

Jean-Michel Rozet

Affiliations

Soon will be listed here.

Abstract

Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase () 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 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 and has only recently been described. Our findings reveal a wider phenotypic presentation of mutations, and a greater genetic heterogeneity of nuclear LHON-like phenotypes. Although pathological variants are very uncommon, this gene should be investigated in HON patients, irrespective of disease presentation.

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