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ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection
Ajay X Thomas1,2, Nichole Link3, Laurie A Robak2,4
1Division Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Annals of Clinical and Translational Neurology
|July 24, 2022
Summary
Deleterious ANKLE2 gene variants cause microcephaly (MIC) with brain and skin abnormalities. This research reveals shared mechanisms between ANKLE2-related MIC and Zika virus, emphasizing molecular diagnostics.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Microcephaly (MIC) is a condition characterized by a smaller than normal head circumference.
- ANKLE2 gene variants have been implicated in certain forms of microcephaly.
- Understanding the genetic and molecular basis of MIC is crucial for diagnosis and treatment.
Purpose of the Study:
- To delineate the clinical and molecular spectrum of ANKLE2-related microcephaly.
- To identify shared pathological mechanisms between ANKLE2 and Zika virus.
- To investigate the functional impact of ANKLE2 variants.
Main Methods:
- Phenotypic evaluation and developmental assessments of 12 individuals with ANKLE2 variants.
- Systematic review of brain imaging studies.
- Functional interrogation of ANKLE2 variants in Drosophila melanogaster.
Main Results:
- Identified a broad range of brain abnormalities including simplified gyral pattern, callosal agenesis, and hypomyelination.
- Observed developmental delays, predominantly speech and language delays.
- Six probands exhibited characteristic skin findings; functional studies confirmed loss-of-function effects for tested variants.
Conclusions:
- Deleterious ANKLE2 variants cause a distinct MIC syndrome with neurological and dermatological features.
- Shared pathogenic mechanisms exist between ANKLE2-related MIC and congenital Zika virus infection.
- Molecular diagnostic testing is essential for individuals with microcephaly.
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