{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T22:09:47Z","timestamp":1783548587710,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"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":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Penttinen type of premature aging syndrome is an autosomal\u2010dominant disorder that can be caused by the c.1994T&gt;A pVal665Ala pathogenic variant in platelet\u2010derived growth factor receptor\u2010B (<jats:italic>PDGFRB<\/jats:italic>). Imatinib, a receptor tyrosine kinase (RTK) inhibitor, has been used in Penttinen syndrome (PS) patients with good results. A 21\u2010year\u2010old male presented shortly after birth with a prematurely aged appearance with distinctive facial features and cutaneous atrophy with hypertrophic scar\u2010like lesions. Generalized brachydactyly with acro\u2010osteolysis was observed. Flexion contractures limited his daily activities. Cognitive impairment was not present. Genetic testing found a heterozygous variant c.1994T&gt;A pVal665Ala in exon 14 of <jats:italic>PDGFRB<\/jats:italic>. A diagnosis of PS was made and imatinib treatment was started with partial response. After lack of further improvement, in vitro molecular studies with imatinib and dasatinib showed that the Val665Ala variant had greater sensitivity to dasatinib than imatinib. This was seen examining levels of P\u2010PDGFRB directly and on downstream ligands P\u2010AKT and P\u2010STAT. Improved clinical response was observed after treatment with dasatinib. We report a new case of PS with clinical and molecular response to dasatinib after incomplete response to imatinib. Our work provides further molecular and clinical evidence of RTK inhibitors' efficacy in this rare disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62603","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T09:37:17Z","timestamp":1639215437000},"page":"1233-1238","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0710-5521","authenticated-orcid":false,"given":"Helena","family":"Iznardo","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cecilie","family":"Bredrup","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Haukeland University Hospital  Bergen Norway"},{"name":"Department of Clinical Medicine University of Bergen  Bergen Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Bernal","sequence":"additional","affiliation":[{"name":"Genetics Department and Sant Pau Biomedical Research Institute Hospital de la Santa Creu i Sant Pau  Barcelona Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER, U705). 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