Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
<h3>Background</h3><p dir="ltr">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 o...
Saved in:
| Main Author: | |
|---|---|
| Other Authors: | , , |
| Published: |
2023
|
| Subjects: | |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1864513526551281664 |
|---|---|
| author | Amira Kohil (15257285) |
| author2 | Atiyeh M. Abdallah (10742523) Khalid Hussain (110443) Mashael Al-Shafai (3466301) |
| author2_role | author author author |
| author_facet | Amira Kohil (15257285) Atiyeh M. Abdallah (10742523) Khalid Hussain (110443) Mashael Al-Shafai (3466301) |
| author_role | author |
| dc.creator.none.fl_str_mv | Amira Kohil (15257285) Atiyeh M. Abdallah (10742523) Khalid Hussain (110443) Mashael Al-Shafai (3466301) |
| dc.date.none.fl_str_mv | 2023-01-31T03:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1186/s13023-023-02614-8 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Genetic_epidemiology_of_Woodhouse-Sakati_Syndrome_in_the_Greater_Middle_East_region_and_beyond_a_systematic_review/25257175 |
| dc.rights.none.fl_str_mv | CC BY 4.0 info:eu-repo/semantics/openAccess |
| dc.subject.none.fl_str_mv | Biological sciences Genetics Biomedical and clinical sciences Pharmacology and pharmaceutical sciences Woodhouse-Sakati Variants DCAF17 Arabs Middle East Consanguinity |
| dc.title.none.fl_str_mv | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <h3>Background</h3><p dir="ltr">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.</p><h3>Methods</h3><p dir="ltr">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”.</p><h3>Results</h3><p dir="ltr">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.</p><h3>Conclusions</h3><p dir="ltr">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.</p><h2>Other Information</h2><p dir="ltr">Published in: Orphanet Journal of Rare Diseases<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s13023-023-02614-8" target="_blank">https://dx.doi.org/10.1186/s13023-023-02614-8</a></p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_82546c11255c58b98da5d9ef70c4363c |
| identifier_str_mv | 10.1186/s13023-023-02614-8 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/25257175 |
| publishDate | 2023 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic reviewAmira Kohil (15257285)Atiyeh M. Abdallah (10742523)Khalid Hussain (110443)Mashael Al-Shafai (3466301)Biological sciencesGeneticsBiomedical and clinical sciencesPharmacology and pharmaceutical sciencesWoodhouse-SakatiVariantsDCAF17ArabsMiddle EastConsanguinity<h3>Background</h3><p dir="ltr">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.</p><h3>Methods</h3><p dir="ltr">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”.</p><h3>Results</h3><p dir="ltr">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.</p><h3>Conclusions</h3><p dir="ltr">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.</p><h2>Other Information</h2><p dir="ltr">Published in: Orphanet Journal of Rare Diseases<br>License: <a href="https://creativecommons.org/licenses/by/4.0" target="_blank">https://creativecommons.org/licenses/by/4.0</a><br>See article on publisher's website: <a href="https://dx.doi.org/10.1186/s13023-023-02614-8" target="_blank">https://dx.doi.org/10.1186/s13023-023-02614-8</a></p>2023-01-31T03:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1186/s13023-023-02614-8https://figshare.com/articles/journal_contribution/Genetic_epidemiology_of_Woodhouse-Sakati_Syndrome_in_the_Greater_Middle_East_region_and_beyond_a_systematic_review/25257175CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/252571752023-01-31T03:00:00Z |
| spellingShingle | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review Amira Kohil (15257285) Biological sciences Genetics Biomedical and clinical sciences Pharmacology and pharmaceutical sciences Woodhouse-Sakati Variants DCAF17 Arabs Middle East Consanguinity |
| status_str | publishedVersion |
| title | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| title_full | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| title_fullStr | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| title_full_unstemmed | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| title_short | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| title_sort | Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Pharmacology and pharmaceutical sciences Woodhouse-Sakati Variants DCAF17 Arabs Middle East Consanguinity |