背景：Verheij综合征是一种罕见的8q24.3染色体微缺失综合征，具有PUF60，SCRIB，和NRBP2基因。随后，在临床特征与Verheij显著重叠的儿童中发现PUF60功能缺失突变.
方法：在这里，我们介绍了首例具有从头无义变体的中国汉族患者（c.1357C>T，p.Gln453*）在PUF60中通过临床全外显子组测序。这个5岁的男孩面部特征畸形，智力残疾,和生长迟缓，但没有明显的心脏，肾,眼,和脊髓异常.
结论：我们的发现有助于理解PUF60相关疾病的基因型和表型。
BACKGROUND: Verheij syndrome is a rare microdeletion syndrome of chromosome 8q24.3 that harbors PUF60, SCRIB, and NRBP2 genes. Subsequently, loss of function mutations in PUF60 have been found in children with clinical features significantly overlapping with Verheij.
METHODS: Here we present the first Chinese Han patient with a de novo nonsense variant (c.1357C > T, p.Gln453*) in PUF60 by clinical whole exome sequencing. The 5-year-old boy presents with dysmorphic facial features, intellectual disability, and growth retardation but without apparent cardiac, renal, ocular, and spinal anomalies.
CONCLUSIONS: Our finding contributes to the understanding of the genotype and phenotype in PUF60 related disorder.
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