MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
Abolfazl RadUmut AltunogluRebecca MillerReza MaroofianKiely N JamesAhmet Okay ÇağlayanMaryam NajafiValentina StanleyRose-Mary BoustanyGözde YeşilAfsaneh SahebzamaniGülhan Ercan-SencicekKolsoum SaeidiKaman WuPeter BauerZeineb BakeyJoseph G GleesonNatalie HauserMurat GunelHulya KayseriliMiriam SchmidtsPublished in: Journal of medical genetics (2018)
This report defines an ultrarare but clinically recognisable Cerebello-Oculo-Facio-Genital syndrome associated with recessive MAB21L1 variants. Additionally, our findings further support the critical role of MAB21L1 in cerebellum, lens, genitalia and as craniofacial morphogenesis.