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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Kohil, Amira Abdallah, Atiyeh M. Hussain, Khalid Al-Shafai, Mashael |
| Abstract | Background Woodhouse-Sakati syndrome (WSS) is a rare, autosomal recessive genetic disorder with variable clinical manifestations mainly affecting the endocrine and nervous systems. The aim of this study was to systematically review the genetic basis of WSS and report the genetic variants and clinical phenotypes associated with the disease. Methods PubMed, Science Direct, Scopus, and Web of Science databases were searched from the time of inception until June 2022. Broad search terms were used to capture the literature describing all genetic variants associated with WSS. The search keywords used are “Woodhouse Sakati” along with the term “mutation” OR “gene” OR “variant” OR “polymorphism”. Results Twenty-five eligible studies were included in this study. One hundred and eighty-five patients in 97 families from 12 different countries were diagnosed with WSS. In patients from the Greater Middle East (GME) region, consanguineous marriages were common (67%). Thirteen different DCAF17 variants were associated with WSS development (including 8 identified in the GME region). The most frequent variant was a frameshift deletion variant (c.436delC, p.Ala147Hisfs*9) unique to Arabs that was reported in 11 cases from Tunisia, Kuwait, Qatar, Bahrain, and Saudi Arabia. There were no clear genotype–phenotype correlations for the different variants. Conclusions This systematic review highlights the molecular basis and clinical manifestations of WSS globally, including the GME region, where the disease is prevalent due to consanguinity. Additional studies are now needed to understand the genotype–phenotype correlation for different DCAF17 variants and their impact on the phenotypic heterogeneity observed in WSS patients. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-023-02614-8.pdf |
| Ending Page | 10 |
| Page Count | 10 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-023-02614-8 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 18 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2023-01-31 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics DCAF17 Woodhouse-Sakati Variants Arabs Middle East Consanguinity Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Review |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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