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

doi:10.1038/s41431-020-0669-x

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Article

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

European journal of human genetics : EJHG - 1 Nov 2020

Scala Marcello, Chua Geok Lin, Chin Cheen Fei, Alsaif Hessa S, Borovikov Artem, Riazuddin Saima, Riazuddin Sheikh, Chiara Manzini M, Severino Mariasavina, Kuk Alvin, Fan Hao, Jamshidi Yalda, Toosi Mehran Beiraghi, Doosti Mohammad, Karimiani Ehsan Ghayoor, Salpietro Vincenzo, Dadali Elena, Baydakova Galina, Konovalov Fedor, Lozier Ekaterina, O'Connor Emer, Sabr Yasser, Alfaifi Abdullah, Ashrafzadeh Farah, Striano Pasquale, Zara Federico, Alkuraya Fowzan S, Houlden Henry, Maroofian Reza, Silver David L

Abstract excerpt

Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the underlying mechanism of inactivation of the MFSD2A transporter. We...

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PMID: 32572202
DOI: 10.1038/s41431-020-0669-x
PMCID: PMC7576150

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MFSD2A

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