Clinical and Genetic Aspects of Verheij Syndrome in Two Cases
MOLECULAR SYNDROMOLOGY, cilt.17, sa.1, ss.59-66, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 17 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.1159/000545448
- Dergi Adı: MOLECULAR SYNDROMOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE
- Sayfa Sayıları: ss.59-66
- Anahtar Kelimeler: Novel variant, PUF60, Verheij syndrome, Whole exome sequencing
- Trakya Üniversitesi Adresli: Evet
Özet
Introduction:Verheij syndrome is associated with a de-letion on chromosome 8q24.3 region orPUF60genemutations. A variety of symptoms including feedingproblems, microcephaly, joint laxity, intellectual disability,cardiac defects, and renal abnormalities are the charac-teristic features of the syndrome.Case Presentation:Inthe current report, 2 cases are presented with Verheijsyndrome in different ages. With this study, we aimed topresent the clinicalfindings of a likely pathogenic novelvariant in thefirst case NM_078480.3(PUF60):c.297+1G>C,and in the second case a likely pathogenic heterozygousmissense variant NM_078480.3(PUF60):c.47G>Tp.(G16V) Conclusion:Averyraresyndrome-Verheij syndrome-isreported in 2 cases with genotype phenotype correlationin this report.(c) 2025 S. Karger AG, Basel