{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:46:59Z","timestamp":1786978019071,"version":"build-2736575974"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T00:00:00Z","timestamp":1638921600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Woodhouse\u2010Sakati syndrome is a rare autosomal recessive disease with endocrine and neuroectodermal aberrations with heterogeneous phenotypes and disease course. The most common phenotypes of the disease are progressive sensorineural hearing loss and alopecia, mild\u2010to\u2010moderate mental retardation and hypogonadism. The disease results from mutations in the\n                      <jats:italic>DCAF17<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Method<\/jats:title>\n                    <jats:p>Here, we reported a large consanguineous pedigree with multiple affected individuals with Woodhouse\u2010Sakati syndrome phenotypes. Laboratory tests confirmed the endocrine perturbance in affected individuals. To find out the underlying genetic change, whole\u2010exome sequencing was carried out.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Result<\/jats:title>\n                    <jats:p>\n                      Analysis of the exome data identified a splicing\u2010site deletion NM_025000.3:c.1423\u20101_1425delGACA in\n                      <jats:italic>DCAF17<\/jats:italic>\n                      gene. Sanger sequencing confirmed the co\u2010segregation of the variant with the disease phenotypes in the family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The variant is predicted to cause aberrant splicing, i.e., exon skipping, resulting in the translation of a truncated functionless protein which results in appearance of typical phenotypic features and clinical laboratory findings of Woodhouse\u2010Sakati syndrome in affected members of the family.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.24127","type":"journal-article","created":{"date-parts":[[2021,12,8]],"date-time":"2021-12-08T03:45:08Z","timestamp":1638935108000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Novel splicing\u2010site mutation in\n                    <i>DCAF17<\/i>\n                    gene causing Woodhouse\u2010Sakati syndrome in a large consanguineous family"],"prefix":"10.1002","volume":"36","author":[{"given":"Fozia","family":"Fozia","sequence":"first","affiliation":[{"name":"Department of Biochemistry Institute of Basic Medical Sciences (IBMS) Khyber Medical University (KMU) Peshawar Khyber Pakhtunkhwa Pakistan"},{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science &amp; Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadim","family":"Shah","sequence":"additional","affiliation":[{"name":"Department of Biotechnology COSMATS University Islamabad Abbottabad Campus Abbottabad Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rubina","family":"Nazli","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Institute of Basic Medical Sciences (IBMS) Khyber Medical University (KMU) Peshawar Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sher Alam","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science &amp; Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ijaz","family":"Ahmad","sequence":"additional","affiliation":[{"name":"Department of Chemistry Kohat University of Science &amp; Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Mohammad","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science &amp; Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5037-1473","authenticated-orcid":false,"given":"Saadullah","family":"Khan","sequence":"additional","affiliation":[{"name":"Department of Biotechnology and Genetic Engineering Kohat University of Science &amp; Technology (KUST) Kohat Khyber Pakhtunkhwa Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Alotaibi","sequence":"additional","affiliation":[{"name":"Basic Science Department College of Medicine Princess Nourah Bint Abdulrahman University Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,12,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.10.018"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01441.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.09.002"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12700"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/ced.14046"},{"key":"e_1_2_9_7_1","volume-title":"GeneReviews(\u00ae)","author":"Bohlega SA"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature03207"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature05175"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2184"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.15094"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14768"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.14887"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.13979"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00129"},{"key":"e_1_2_9_16_1","first-page":"482","article-title":"Sequence variants in four genes underlying Bardet\u2010Biedl syndrome in consanguineous families","volume":"23","author":"Ullah A","year":"2017","journal-title":"Mol Vis"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000323441"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13183"}],"container-title":["Journal of Clinical Laboratory Analysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24127","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jcla.24127","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jcla.24127","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T00:20:53Z","timestamp":1693182053000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jcla.24127"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,8]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["10.1002\/jcla.24127"],"URL":"https:\/\/doi.org\/10.1002\/jcla.24127","archive":["Portico"],"relation":{},"ISSN":["0887-8013","1098-2825"],"issn-type":[{"value":"0887-8013","type":"print"},{"value":"1098-2825","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,8]]},"assertion":[{"value":"2021-06-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-08-31","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e24127"}}