<i>Biallelic ZNF335</i> mutations cause basal ganglia abnormality with progressive cerebral/cerebellar atrophy.

ÇAĞLAYAN A. O., Yaghouti K., Kockaya T., Kemer D., ÇANKAYA T., Ameziane N., ...More

Journal of neurogenetics, vol.35, no.1, pp.23-28, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1080/01677063.2020.1833006
  • Journal Name: Journal of neurogenetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Page Numbers: pp.23-28
  • Keywords: Basal ganglia, brain atrophy, neurodegeneration, whole genome sequencing, REST/NRSF, PATHOGENICITY, VARIANTS
  • Dokuz Eylül University Affiliated: Yes


To date, less than 10 pedigrees have been reported with ZNF335 mutations since it was discovered in 2012 and little is known about ZNF335-related clinical spectrum. We describe a 12 years old male patient who is only child of nonconsanguineous Turkish parents. Trio whole genome sequencing identified previously unreported compound heterozygous variants in ZNF335, namely, c.3889T > A p.(Ser1297Thr) and c.758G > A p.(Arg253Gln) where transmitted by his father and mother, respectively. Patient' magnetic resonance imaging findings were overlapping to those observed in the previous cases with ZNF335 mutations. Here we report the oldest patient with biallelic ZNF335 mutations. We recommend screening for ZNF335 defects in patients with basal ganglia anomaly, secondary white matter abnormalities and microcephaly.