Supplementary Material for: Clinical and Genetic Aspects of Verheij Syndrome in Two Cases

Introduction: Verheij syndrome is associated with a deletion on chromosome 8q24.3 region or PUF60 gene mutations. A variety of symptoms including feeding problems, microcephaly, joint laxity, and intellectual disability, cardiac defects, and renal abnormalities are the characteristic features of the syndrome. Case Presentation: In the current report, two cases were presented with Verheij Syndrome in different ages. And with this study, we aimed to present the clinical findings of a likely pathogenic novel variant in the first case NM_078480.3(PUF60):c.297+1G>C, and in the second case a likely pathogenic heterozygous missense variant NM_078480.3(PUF60):c.47G>T p.(G16V). Conclusion: A very rare syndrome – Verheij Syndrome – was reported in two cases with genotype phenotype correlation in this report.

引言：Verheij综合征（Verheij syndrome）与8q24.3区域染色体缺失或PUF60基因（PUF60 gene）突变相关。该综合征的典型临床特征包括喂养困难、小头畸形、关节松弛、智力障碍、心脏缺损及肾脏异常。
病例报告：本报告收录两例不同年龄段的Verheij综合征患者。本研究旨在报告两例病例的临床特征：第一例携带疑似致病性新变异NM_078480.3(PUF60):c.297+1G>C，第二例携带疑似致病性杂合错义变异NM_078480.3(PUF60):c.47G>T p.(G16V)。
结论：本报告通过两例病例报道了极为罕见的Verheij综合征，并对其基因型与表型的相关性进行了分析。