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Expanding the clinical spectrum of biallelic ZNF335 variants

(2018) CLINICAL GENETICS. 94(2). p.246-251
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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.1399T>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.
Keywords
basal ganglia, microcephaly, neurodegeneration, neurogenesis, ZNF335

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MLA
Stouffs, K, AB Stergachis, T Vanderhasselt, et al. “Expanding the Clinical Spectrum of Biallelic ZNF335 Variants.” CLINICAL GENETICS 94.2 (2018): 246–251. Print.
APA
Stouffs, K., Stergachis, A., Vanderhasselt, T., Dica, A., Janssens, S., Vandervore, L., Gheldof, A., et al. (2018). Expanding the clinical spectrum of biallelic ZNF335 variants. CLINICAL GENETICS, 94(2), 246–251.
Chicago author-date
Stouffs, K, AB Stergachis, T Vanderhasselt, A Dica, Sandra Janssens, L Vandervore, A Gheldof, et al. 2018. “Expanding the Clinical Spectrum of Biallelic ZNF335 Variants.” Clinical Genetics 94 (2): 246–251.
Chicago author-date (all authors)
Stouffs, K, AB Stergachis, T Vanderhasselt, A Dica, Sandra Janssens, L Vandervore, A Gheldof, O Bodamer, K Keymolen, S Seneca, I Liebaers, D Jayaraman, HE Hill, JN Partlow, CA Walsh, and AC Jansen. 2018. “Expanding the Clinical Spectrum of Biallelic ZNF335 Variants.” Clinical Genetics 94 (2): 246–251.
Vancouver
1.
Stouffs K, Stergachis A, Vanderhasselt T, Dica A, Janssens S, Vandervore L, et al. Expanding the clinical spectrum of biallelic ZNF335 variants. CLINICAL GENETICS. 2018;94(2):246–51.
IEEE
[1]
K. Stouffs et al., “Expanding the clinical spectrum of biallelic ZNF335 variants,” CLINICAL GENETICS, vol. 94, no. 2, pp. 246–251, 2018.
@article{8576859,
  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.1399T>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.},
  author       = {Stouffs, K and Stergachis, AB and Vanderhasselt, T and Dica, A and Janssens, Sandra and Vandervore, L and Gheldof, A and Bodamer, O and Keymolen, K and Seneca, S and Liebaers, I and Jayaraman, D and Hill, HE and Partlow, JN and Walsh, CA and Jansen, AC},
  issn         = {0009-9163},
  journal      = {CLINICAL GENETICS},
  keywords     = {basal ganglia,microcephaly,neurodegeneration,neurogenesis,ZNF335},
  language     = {eng},
  number       = {2},
  pages        = {246--251},
  title        = {Expanding the clinical spectrum of biallelic ZNF335 variants},
  url          = {http://dx.doi.org/10.1111/cge.13260},
  volume       = {94},
  year         = {2018},
}

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