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

To date, less than 10 pedigrees have been reported with <i>ZNF335</i> 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 <i>ZNF335</i>, namely, c.3889T &gt; A p.(Ser1297Thr) and c.758G &gt; 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 <i>ZNF335</i> mutations. Here we report the oldest patient with biallelic <i>ZNF335</i> mutations. We recommend screening for ZNF335 defects in patients with basal ganglia anomaly, secondary white matter abnormalities and microcephaly.