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.