Abstract

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.

摘要

迄今为止，自 2012 年发现ZNF335突变以来，报道的家系不到 10 个，并且对 ZNF335 相关的临床谱知之甚少。我们描述了一名 12 岁男性患者，他是非近亲土耳其父母的独生子。Trio 全基因组测序鉴定了ZNF335 中先前未报道的复合杂合变体，即 c.3889T > A p.(Ser1297Thr) 和 c.758G > A p.(Arg253Gln)，分别由其父亲和母亲传播。患者的磁共振成像结果与之前在ZNF335突变病例中观察到的结果重叠。在这里，我们报告了双等位基因ZNF335 年龄最大的患者突变。我们建议筛查基底节异常、继发性白质异常和小头畸形患者的 ZNF335 缺陷。