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

• Main Authors: Ting Zeng (Author), Linyan Liao (Author), Yi Guo (Author), Xuxu Liu (Author), Xiaobo Xiong (Author), Yu Zhang (Author), Shi Cen (Author), Honghui Li (Author), Shuzhang Wei (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...