Article
Biallelic loss-of-function variants in DSCAM cause a neurodevelopmental syndrome with nystagmus and retinal dysfunction.
HGG advances - 9 Jul 2026
Houge Sofia Douzgou, Bredrup Cecilie, Jansson Ragnhild Wivestad, Bojovic Ognjen, Aljamal Bayan M, Al-Otaibi Maha, Plomp Astrid S, Motazacker Mahdi M, van Genderen Maria M, Mellgren Anne, Alkuraya Hisham, Hikmat Omar, Haukanes Bjørn Ivar, Alkuraya Fowzan S, Houge Gunnar Douzgos
Abstract excerpt
DSCAM occupies a 1-Mb locus in the original Down syndrome critical region on chromosome 21q22 and encodes a neuronal cell adhesion molecule of importance for brain and eye development. Singleton individuals, both born to first-cousin parents, with intellectual disability and homozygous DSCAM loss-of-function variants were reported in 2017 and in 2021, the latter also presenting with nystagmus and visual...
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