{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T01:13:05Z","timestamp":1787015585692,"version":"build-2736575974"},"reference-count":27,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T00:00:00Z","timestamp":1658707200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["54\/12\/2019\u2010HUM\/BMS"],"award-info":[{"award-number":["54\/12\/2019\u2010HUM\/BMS"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Neuroendocrinology"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Woodhouse\u2010Sakati syndrome (WSS) is an extremely rare multisystemic disorder with neuroendocrine dysfunctions. It is characterized by hypogonadism, alopecia, diabetes mellitus, intellectual disability and progressive extrapyramidal syndrome along with radiological features of small pituitary gland, progressive frontoparietal white matter changes and abnormal accumulation of iron on globus pallidus. WSS is caused by mutations in\n                    <jats:italic>DCAF17<\/jats:italic>\n                    gene that encodes for DDB1 and CUL4 associated factor 17. In this study, we report a 17\u2010year\u2010old boy with clinical and radiological features of WSS including mild global developmental delay, mild intellectual disability, sensorineural hearing loss, progressive extrapyramidal syndrome, alopecia, hypogonadotropic hypogonadism and dysmorphic features. Whole exome sequencing analysis revealed a novel potentially pathogenic splice donor site variant (c.458+1G&gt;T) on the intron 4 of\n                    <jats:italic>DCAF17<\/jats:italic>\n                    gene. Transcript analysis revealed splicing ablation resulting in aberrant splicing of exons 3 and 5 and skipping of exon 4 (c.322_458del). This results in a frameshift and is predicted to cause premature termination of protein synthesis resulting in a protein product of length 120 amino acids (p.[Gly108Ilefs*14]). Our study identified a novel pathogenic variant causing WSS in a patient and expands the spectrum of clinical and genetic characteristics of patients with WSS.\n                  <\/jats:p>","DOI":"10.1111\/jne.13185","type":"journal-article","created":{"date-parts":[[2022,7,4]],"date-time":"2022-07-04T01:29:59Z","timestamp":1656898199000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in\n                    <scp>\n                      <i>DCAF17<\/i>\n                    <\/scp>\n                    gene underlying\n                    <scp>Woodhouse\u2010Sakati<\/scp>\n                    syndrome."],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6550-8505","authenticated-orcid":false,"given":"Riyanka","family":"Kumari","sequence":"first","affiliation":[{"name":"Institute of Bioinformatics International Technology Park  Bangalore India"},{"name":"Manipal Academy of Higher Education  Manipal Karnataka India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3634-2219","authenticated-orcid":false,"given":"Vikram V.","family":"Holla","sequence":"additional","affiliation":[{"name":"Department of Neurology National Institute of Mental Health and Neurosciences (NIMHANS)  Bangalore India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0982-8192","authenticated-orcid":false,"given":"Prashant","family":"Phulpagar","sequence":"additional","affiliation":[{"name":"Institute of Bioinformatics International Technology Park  Bangalore India"},{"name":"Manipal Academy of Higher Education  Manipal Karnataka 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