| Literature DB >> 29652087 |
K Stouffs1,2, A B Stergachis3, T Vanderhasselt4, A Dica5, S Janssens6, L Vandervore2, A Gheldof1,2, O Bodamer7, K Keymolen1,2, S Seneca1,2, I Liebaers1, D Jayaraman8, H E Hill8, J N Partlow8,9, C A Walsh8,9,10,11, A C Jansen2,12.
Abstract
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 2 unrelated families. We describe, herein, 2 additional affected individuals with biallelic ZNF335 variants, 1 individual with a homozygous c.1399 T > C, p.(Cys467Arg) variant, and a second individual with compound heterozygous c.2171_2173delTCT, p.(Phe724del) and c.3998A > G, p.(Glu1333Gly) variants with the latter variant predicted to affect splicing. Whereas the first case presented with early death and a severe phenotype characterized by anterior agyria with prominent extra-axial spaces, absent basal ganglia, and hypoplasia of the brainstem and cerebellum, the second case had a milder clinical presentation with hypomyelination and otherwise preserved brain structures on MRI. Our findings expand the clinical spectrum of ZNF335-associated microcephaly.Entities:
Keywords: ZNF335; basal ganglia; microcephaly; neurodegeneration; neurogenesis
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Year: 2018 PMID： 29652087 PMCID： PMC6361164 DOI： 10.1111/cge.13260
Source DB: PubMed Journal: Clin Genet ISSN： 0009-9163 Impact factor: 4.438