1. Expanding the clinical spectrum of biallelic ZNF335 variants.
- Author
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Stouffs, K., Stergachis, A. B., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., Bodamer, O., Keymolen, K., Seneca, S., Liebaers, I., Jayaraman, D., Hill, H. E., Partlow, J. N., Walsh, C. A., and Jansen, A. C.
- Subjects
BASAL ganglia ,NEURODEGENERATION ,MICROCEPHALY ,BRAIN stem ,DEVELOPMENTAL neurobiology - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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