Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration partners, identified two novel disease-causing variants in the MFSD2A gene. The encoded protein is a transmembrane molecule and is, for example, responsible for transporting certain essential fatty acids through the blood-brain barrier. Among other functions, the protein plays thus a vital role in early embryonic brain development. With the two severely affected patients investigated in this recent study, a total of 30 persons have now been described in whom homozygous or compound heterozygous MFSD2A variants result in a variable clinical phenotype associated with microcephaly, intellectual disability, developmental delay and – for the newly identified variants – epilepsy.

The results of the study have been published in the European Journal of Medical Genetics.

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A.
Eur J Med Genet. 2021 Aug 13:104310. doi: 10.1016/j.ejmg.2021.104310. Epub ahead of print.