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.
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。