{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:05Z","timestamp":1772160065451,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,13]],"date-time":"2021-01-13T00:00:00Z","timestamp":1610496000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Biallelic pathogenic variants in\n                    <jats:italic>POC1A<\/jats:italic>\n                    result in SOFT (\n                    <jats:styled-content>S<\/jats:styled-content>\n                    hort\u2010stature,\n                    <jats:styled-content>O<\/jats:styled-content>\n                    nychodysplasia,\n                    <jats:styled-content>F<\/jats:styled-content>\n                    acial\u2010dysmorphism, and hypo\n                    <jats:styled-content>T<\/jats:styled-content>\n                    richosis) and variant POC1A\u2010related (vPOC1A) syndromes. The latter, nowadays described in only two unrelated subjects, is associated with a restricted spectrum of variants falling in exon 10, which is naturally skipped in a specific\n                    <jats:italic>POC1A<\/jats:italic>\n                    mRNA. The synthesis of an amount of a POC1A isoform from this transcript in individuals with vPOC1A syndrome has been believed as the likely explanation for such a genotype\u2013phenotype correlation. Here, we illustrate the clinical and molecular findings in a woman who resulted to be compound heterozygous for a recurrent frameshift variant in exon 10 and a novel variant in exon 9 of\n                    <jats:italic>POC1A<\/jats:italic>\n                    . Phenotypic characteristics of this woman included severe hyperinsulinemic dyslipidemia, acanthosis nigricans, moderate growth restriction, and dysmorphisms. These manifestations overlap the clinical features of the two previously published individuals with vPOC1A syndrome. RT\u2010PCR analysis on peripheral blood and subsequent sequencing of the obtained amplicons demonstrated a variety of\n                    <jats:italic>POC1A<\/jats:italic>\n                    alternative transcripts that resulted to be expressed in the proband, in the healthy mother, and in controls. We illustrate the possible consequences of the two\n                    <jats:italic>POC1A<\/jats:italic>\n                    identified variants in an attempt to explain pleiotropy in vPOC1A syndrome.\n                  <\/jats:p>","DOI":"10.1111\/cge.13911","type":"journal-article","created":{"date-parts":[[2020,12,29]],"date-time":"2020-12-29T01:37:49Z","timestamp":1609205869000},"page":"540-546","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical presentation and molecular characterization of a novel patient with variant\n                    <i>\n                      <scp>POC1A<\/scp>\n                      \u2010\n                    <\/i>\n                    related syndrome"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7153-9351","authenticated-orcid":false,"given":"Silvia","family":"Majore","sequence":"first","affiliation":[{"name":"Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6543-6225","authenticated-orcid":false,"given":"Emanuele","family":"Agolini","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Laboratories Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3604-194X","authenticated-orcid":false,"given":"Lucia","family":"Micale","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2440-7441","authenticated-orcid":false,"given":"Giulia","family":"Pascolini","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Zuppi","sequence":"additional","affiliation":[{"name":"Endocrinology Unit San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8583-3866","authenticated-orcid":false,"given":"Dario","family":"Cocciadiferro","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Laboratories Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1094-1774","authenticated-orcid":false,"given":"Silvia","family":"Morlino","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matteo","family":"Mattiuzzo","sequence":"additional","affiliation":[{"name":"Laboratory of Medical Genetics, Department of Laboratories Bambino Ges\u00f9 Children's Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Valiante","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Molecular Medicine Sapienza University, San Camillo\u2010Forlanini Hospital  Rome Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6069-0993","authenticated-orcid":false,"given":"Marco","family":"Castori","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Fondazione IRCCS\u2010Casa Sollievo della Sofferenza  Foggia 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