Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
Year: 2025
Type: article
Study design: Case Report
Abstract: 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, intellectual disability, cardiac defects, and renal abnormalities are the characteristic features of the syndrome. Case Presentation: 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). Conclusion: A very rare syndrome – Verheij syndrome – is reported in 2 cases with genotype phenotype correlation in this report.
Source: Molecular Syndromology
DOI: 10.1159/000545448
Institution: Trakya University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W4408813097