{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T17:24:02Z","timestamp":1775841842955,"version":"3.50.1"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T00:00:00Z","timestamp":1629504000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T00:00:00Z","timestamp":1629504000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Fund of China","doi-asserted-by":"crossref","award":["82001371"],"award-info":[{"award-number":["82001371"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Pathogenic variants in <jats:italic>POC1A<\/jats:italic> led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT and vPOC1A syndrome include dyslipidemia with insulin resistance and acanthosis nigricans. To our knowledge, this is the first report of a SOFT syndrome patient diagnosed with a homozygous splicing variant, which could help to extend our understanding of the genotypic and phenotypic information of the disease.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We reported a seven-year-old boy with SOFT syndrome. The patient presented symmetrical short stature and facial features, including prominent forehead, inverted triangular face, epicanthal fold, small teeth and enlarged ears. Laboratory tests displayed mild insulin resistance. Whole-exome sequencing (WES) led to the identification of a homozygous splicing variant (c.981+1G&gt;A) in <jats:italic>POC1A<\/jats:italic> gene of the patient, which was inherited from his heterozygous parents confirmed by Sanger sequencing. Further transcriptional experiments of the splicing variant revealed aberrant percentage of exon 9 skipping transcripts.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This is the firstly reported case of a SOFT syndrome patient with a novel homozygous splicing variant and detailed delineation of the aberrant transcript in proband and carrier of the variant in Chinese. Our study enriched mutational spectrum of <jats:italic>POC1A<\/jats:italic> which could help in further genetic diagnosis and counselling of SOFT syndrome patients.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01055-1","type":"journal-article","created":{"date-parts":[[2021,8,21]],"date-time":"2021-08-21T09:03:05Z","timestamp":1629536585000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report"],"prefix":"10.1186","volume":"14","author":[{"given":"Guoqiang","family":"Li","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoying","family":"Chang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Niu","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiumin","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jian","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiwen","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4147-5291","authenticated-orcid":false,"given":"Ruen","family":"Yao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,8,21]]},"reference":[{"issue":"2","key":"1055_CR1","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/j.ajhg.2012.06.003","volume":"91","author":"O Sarig","year":"2012","unstructured":"Sarig O, Nahum S, Rapaport D, et al. Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. Am J Hum Genet. 2012;91(2):337\u201342.","journal-title":"Am J Hum Genet"},{"issue":"2","key":"1055_CR2","doi-asserted-by":"publisher","first-page":"330","DOI":"10.1016\/j.ajhg.2012.05.025","volume":"91","author":"R Shaheen","year":"2012","unstructured":"Shaheen R, Faqeih E, Shamseldin HE, et al. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012;91(2):330\u20136.","journal-title":"Am J Hum Genet"},{"issue":"19","key":"1055_CR3","doi-asserted-by":"publisher","first-page":"5378","DOI":"10.1093\/hmg\/ddv261","volume":"24","author":"A Koparir","year":"2015","unstructured":"Koparir A, Karatas OF, Yuceturk B, et al. Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 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This study was approved by the Committee on Ethics of the Shanghai Children\u2019s Medical Center (SCMCIRB-K2016013) and was performed in accordance with the Declaration of Helsinki. Written informed consent was obtained from the proband\u2019s parents and the control subject to participate in our study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of identifying images and other personal or clinical details was obtained from both of the proband\u2019s father and mother. Written informed consent for publication of identifying images or other personal or clinical details was obtained from the control subject.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"207"}}