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Article

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report.

BMC pediatrics - 3 Sept 2020

Zeng Ting, Liao Linyan, Guo Yi, Liu Xuxu, Xiong Xiaobo, Zhang Yu, Cen Shi, Li Honghui, Wei Shuzhang

Abstract excerpt

BACKGROUND: Optic atrophy 1 (OPA1) gene mutations are associated with dominantly inherited optic neuropathy resulting in a progressive loss of visual acuity. Compound heterozygous or homozygous variants that lead to severe phenotypes, including Behr syndrome, have been reported rarely. CASE PRESENTATION: Here, we present a 14-month-old boy with early onset optic atrophy, congenital cataracts, neuromuscular...

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Identifiers

PMID: 32883255
DOI: 10.1186/s12887-020-02309-0
PMCID: PMC7469303

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