Clinical and Genetic Aspects of Verheij Syndrome in Two Cases

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, intellectual disability, cardiac defects, and renal abnormalities are the characteristic features of the syndrome.

In the current report, 2 cases are presented with Verheij syndrome in different ages. 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).

A very rare syndrome - Verheij syndrome - is reported in 2 cases with genotype phenotype correlation in this report.