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Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging

Marcello Scala1,2,3, Geok Lin Chua4, Cheen Fei Chin4

  • 1Department of Neuromuscular Disorders, Institute of Neurology, University College London, London, UK.

European Journal of Human Genetics : EJHG
|June 24, 2020
PubMed
Summary

Genetic variants in the Major Facilitator Superfamily Domain containing 2a (MFSD2A) gene cause primary microcephaly 15 (MCPH15). This study expands the understanding of MCPH15 phenotypes and reveals that reduced MFSD2A expression or activity disrupts prenatal brain development.

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