Two AOS genes attributed to familial exudative vitreoretinopathy with microcephaly: Two case reports.

ABSTRACT:

Rationale

Familial exudative vitreoretinopathy (FEVR) is an inherited disorder, which is mostly reported to be associated with the mutation of genes involved in the Wnt signaling pathway related to β-catenin. To the best of our knowledge, the involvement of Adams-Oliver syndrome (AOS) genes in FEVR patients have not been reported before.

Patient concerns

Two patients with FEVR presented with microcephaly. One of them showed slight scarring of the scalp vertex which is a typical manifestation of AOS. The whole exon sequencing confirmed the diagnosis of AOS with 2 AOS-gene mutations at DOCK6 and ARHGAP31. Further clinical examination revealed that their parents with the same mutations showed FEVR-like vascular anomalies.

Diagnosis

Both patients were diagnosed with AOS t

SUBMITTER: Tao Z 

PROVIDER: S-EPMC7939203 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature