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

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

Abstract 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...

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Bibliographic Details
Main Authors: Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei
Format: Article
Language:English
Published: BMC 2020-09-01
Series:BMC Pediatrics
Subjects:
OPA1
Optic atrophy
Behr syndrome
Microdeletion
Case report
Online Access:http://link.springer.com/article/10.1186/s12887-020-02309-0

Internet

http://link.springer.com/article/10.1186/s12887-020-02309-0

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