ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.

ABSTRACT:

Objective

This study delineates the clinical and molecular spectrum of ANKLE2-related microcephaly (MIC), as well as highlights shared pathological mechanisms between ANKLE2 and the Zika virus.

Methods

We identified 12 individuals with MIC and variants in ANKLE2 with a broad range of features. Probands underwent thorough phenotypic evaluations, developmental assessments, and anthropometric measurements. Brain imaging studies were systematically reviewed for developmental abnormalities. We functionally interrogated a subset of identified ANKLE2 variants in Drosophila melanogaster.

Results

All individuals had MIC (z-score ≤ -3), including nine with congenital MIC. We identified a broad range of brain abnormalities including simplified cortical gyral pattern, full or par

SUBMITTER: Thomas AX 

PROVIDER: S-EPMC9380164 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature