N A Makretskaya, O R Ismagilova, E A Shestopalova, M V Sharova, O A Levchenko, A V Bolmasova, M V Bulakh, V V Zabnenkova, A A Orlova, A A Kolodkina, O P Ryzhkova, A V Poliakov, A N Tiulpakov
{"title":"[Clinical and molecular genetic features of cases of Floating-Harbor syndrome].","authors":"N A Makretskaya, O R Ismagilova, E A Shestopalova, M V Sharova, O A Levchenko, A V Bolmasova, M V Bulakh, V V Zabnenkova, A A Orlova, A A Kolodkina, O P Ryzhkova, A V Poliakov, A N Tiulpakov","doi":"10.14341/probl13530","DOIUrl":null,"url":null,"abstract":"<p><p>Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.</p>","PeriodicalId":101419,"journal":{"name":"Problemy endokrinologii","volume":"71 3","pages":"56-61"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12319634/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Problemy endokrinologii","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.14341/probl13530","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Floating-Harbor syndrome is an autosomal dominant genetic disorder that is part of a group of growth retardation. The main clinical features of syndrome are short stature, delayed speech development and peculiar facial features: triangular face with a narrow chin, deeply set eyes, a short filter, a macrostomy, a nose with a narrow bridge and wide base and tip, a drooping columella. The syndrome is associated with heterozygous pathogenic variants were truncating and occurred in 33 and 34 exons of SRCAP. Heterogeneity and the absence of specific clinical features complicates the formulation of this diagnosis, which necessitates molecular genetic verification. In this paper, we present the first description of 6 patients with proven Floating-Harbor syndrome in the Russian Federation.
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