K Stouffs, A B Stergachis, T Vanderhasselt, A Dica, S Janssens, L Vandervore, A Gheldof, O Bodamer, K Keymolen, S Seneca, I Liebaers, D Jayaraman, H E Hill, J N Partlow, C A Walsh, A C Jansen
ZNF335 plays an essential role in neurogenesis and biallelic variants in ZNF335 have been identified as the cause of severe primary autosomal recessive microcephaly in two unrelated families. We describe herein two additional affected individuals with biallelic ZNF335 variants, one individual with a homozygous c.1399T>C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A>G, p.(Glu1333Gly) variants in ZNF335; with the latter variant predicted to affect splicing...
April 13, 2018: Clinical Genetics