Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review
<p dir="ltr">Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the <i>DCAF17</i> gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenoty...
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2021
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| _version_ | 1864513555857932288 |
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| author | Rehab Ali (14152668) |
| author2 | Nader Al‐Dewik (14777014) Shayma Mohammed (13020777) Mahmud Elfituri (14777017) Sahar Agouba (14777020) Sara Musa (14152662) Laila Mahmoud (14777023) Mariam Almulla (14152656) Karen El‐Akouri (14776951) Howaida Mohd (14777026) Reem Bux (14777029) Hajer Almulla (14152650) Amna Othman (14152659) Fatma Al‐Mesaifri (14776963) Noora Shahbeck (14152671) Mariam Al‐Muriekhi (14777032) Amal Khalifa (14777035) Reem Al‐Sulaiman (14776948) Tawfeg Ben‐Omran (14776975) |
| author2_role | author author author author author author author author author author author author author author author author author author |
| author_facet | Rehab Ali (14152668) Nader Al‐Dewik (14777014) Shayma Mohammed (13020777) Mahmud Elfituri (14777017) Sahar Agouba (14777020) Sara Musa (14152662) Laila Mahmoud (14777023) Mariam Almulla (14152656) Karen El‐Akouri (14776951) Howaida Mohd (14777026) Reem Bux (14777029) Hajer Almulla (14152650) Amna Othman (14152659) Fatma Al‐Mesaifri (14776963) Noora Shahbeck (14152671) Mariam Al‐Muriekhi (14777032) Amal Khalifa (14777035) Reem Al‐Sulaiman (14776948) Tawfeg Ben‐Omran (14776975) |
| author_role | author |
| dc.creator.none.fl_str_mv | Rehab Ali (14152668) Nader Al‐Dewik (14777014) Shayma Mohammed (13020777) Mahmud Elfituri (14777017) Sahar Agouba (14777020) Sara Musa (14152662) Laila Mahmoud (14777023) Mariam Almulla (14152656) Karen El‐Akouri (14776951) Howaida Mohd (14777026) Reem Bux (14777029) Hajer Almulla (14152650) Amna Othman (14152659) Fatma Al‐Mesaifri (14776963) Noora Shahbeck (14152671) Mariam Al‐Muriekhi (14777032) Amal Khalifa (14777035) Reem Al‐Sulaiman (14776948) Tawfeg Ben‐Omran (14776975) |
| dc.date.none.fl_str_mv | 2021-09-30T06:00:00Z |
| dc.identifier.none.fl_str_mv | 10.1002/ajmg.a.62501 |
| dc.relation.none.fl_str_mv | https://figshare.com/articles/journal_contribution/Expanding_on_the_phenotypic_spectrum_of__Woodhouse_Sakati__syndrome_due_to_founder_pathogenic_variant_in____i_DCAF17_i____Report_of_58_additional_patients_from_Qatar_and_literature_review/22257502 |
| 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 Clinical sciences c.436delC DCAF17 gene founder pathogenic variant Qatar variable clinical manifestations Woodhouse-Sakati syndrome |
| dc.title.none.fl_str_mv | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| dc.type.none.fl_str_mv | Text Journal contribution info:eu-repo/semantics/publishedVersion text contribution to journal |
| description | <p dir="ltr">Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the <i>DCAF17</i> gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenotypic heterogeneity. In this retrospective study, we report on the clinical and molecular characteristics of additional 58 additional Qatari patients with WSS and compare them to international counterparts' findings. A total of 58 patients with WSS from 32 consanguineous families were identified. Ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping among patients with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behavior (10%). Distinctive facial features were noted in all patients and extrapyramidal manifestations were uncommon (8.6%). This study is the largest to date on Qatari patients with WSS and highlights the high incidence and clinical heterogeneity of WSS in Qatar due to a founder variant c.436delC in the <i>DCAF17</i> gene. Early suspicion of WSS among Qatari patients with hypogonadism and ID, even in the absence of other manifestations, would shorten the diagnostic odyssey, guide early and appropriate management, and avoid potential complications.</p><h2>Other Information</h2><p dir="ltr">Published in: American Journal of Medical Genetics Part A<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1002/ajmg.a.62501" target="_blank">http://dx.doi.org/10.1002/ajmg.a.62501</a></p><p dir="ltr">Additional institutions affiliated with: National Center for Rare Disease - HMC</p> |
| eu_rights_str_mv | openAccess |
| id | Manara2_2451f6504c4ea843276d1ec2d9b6c1d2 |
| identifier_str_mv | 10.1002/ajmg.a.62501 |
| network_acronym_str | Manara2 |
| network_name_str | Manara2 |
| oai_identifier_str | oai:figshare.com:article/22257502 |
| publishDate | 2021 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| rights_invalid_str_mv | CC BY 4.0 |
| spelling | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature reviewRehab Ali (14152668)Nader Al‐Dewik (14777014)Shayma Mohammed (13020777)Mahmud Elfituri (14777017)Sahar Agouba (14777020)Sara Musa (14152662)Laila Mahmoud (14777023)Mariam Almulla (14152656)Karen El‐Akouri (14776951)Howaida Mohd (14777026)Reem Bux (14777029)Hajer Almulla (14152650)Amna Othman (14152659)Fatma Al‐Mesaifri (14776963)Noora Shahbeck (14152671)Mariam Al‐Muriekhi (14777032)Amal Khalifa (14777035)Reem Al‐Sulaiman (14776948)Tawfeg Ben‐Omran (14776975)Biological sciencesGeneticsBiomedical and clinical sciencesClinical sciencesc.436delCDCAF17 genefounder pathogenic variantQatarvariable clinical manifestationsWoodhouse-Sakati syndrome<p dir="ltr">Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the <i>DCAF17</i> gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenotypic heterogeneity. In this retrospective study, we report on the clinical and molecular characteristics of additional 58 additional Qatari patients with WSS and compare them to international counterparts' findings. A total of 58 patients with WSS from 32 consanguineous families were identified. Ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping among patients with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behavior (10%). Distinctive facial features were noted in all patients and extrapyramidal manifestations were uncommon (8.6%). This study is the largest to date on Qatari patients with WSS and highlights the high incidence and clinical heterogeneity of WSS in Qatar due to a founder variant c.436delC in the <i>DCAF17</i> gene. Early suspicion of WSS among Qatari patients with hypogonadism and ID, even in the absence of other manifestations, would shorten the diagnostic odyssey, guide early and appropriate management, and avoid potential complications.</p><h2>Other Information</h2><p dir="ltr">Published in: American Journal of Medical Genetics Part A<br>License: <a href="http://creativecommons.org/licenses/by/4.0/" target="_blank">http://creativecommons.org/licenses/by/4.0/</a><br>See article on publisher's website: <a href="http://dx.doi.org/10.1002/ajmg.a.62501" target="_blank">http://dx.doi.org/10.1002/ajmg.a.62501</a></p><p dir="ltr">Additional institutions affiliated with: National Center for Rare Disease - HMC</p>2021-09-30T06:00:00ZTextJournal contributioninfo:eu-repo/semantics/publishedVersiontextcontribution to journal10.1002/ajmg.a.62501https://figshare.com/articles/journal_contribution/Expanding_on_the_phenotypic_spectrum_of__Woodhouse_Sakati__syndrome_due_to_founder_pathogenic_variant_in____i_DCAF17_i____Report_of_58_additional_patients_from_Qatar_and_literature_review/22257502CC BY 4.0info:eu-repo/semantics/openAccessoai:figshare.com:article/222575022021-09-30T06:00:00Z |
| spellingShingle | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review Rehab Ali (14152668) Biological sciences Genetics Biomedical and clinical sciences Clinical sciences c.436delC DCAF17 gene founder pathogenic variant Qatar variable clinical manifestations Woodhouse-Sakati syndrome |
| status_str | publishedVersion |
| title | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| title_full | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| title_fullStr | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| title_full_unstemmed | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| title_short | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| title_sort | Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in <i>DCAF17</i>: Report of 58 additional patients from Qatar and literature review |
| topic | Biological sciences Genetics Biomedical and clinical sciences Clinical sciences c.436delC DCAF17 gene founder pathogenic variant Qatar variable clinical manifestations Woodhouse-Sakati syndrome |