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 presentation

Here, we present a 14-month-old boy with early onset optic atrophy, congenital cataracts, neuromuscular disorders, mental retardation, and developmental delay. Combined genetic testing, including whole exome sequencing (WES) and chromosomal microarray analysis, revealed a concurrent OPA1 variant (c.2189 T > C p.Leu730Ser) and de novo chromosome 3q deletion as pathogenic variants leading to the severe phenotype.

Conclusions

Our case is the first reporting a novel missens

SUBMITTER: Zeng T 

PROVIDER: S-EPMC7469303 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature