{"title":"The First Familiar Case of PTEN-Related Disorder Reported in Albania.","authors":"Donjeta Bali, Mirela Tabaku, Agim Gjikopulli, Virtut Velmishi, Behar Tocilla, Anila Godo, Paskal Cullufi","doi":"10.5152/TurkArchPediatr.2023.23093","DOIUrl":null,"url":null,"abstract":"559 PTEN hamartoma tumor syndromes (PHTS) are a group of genetic disorders inherited in an autosomal dominant manner and linked to the germ line of the tumor suppressor gene PTEN located on 10q23 (OMIM 601728).1-4 The PHTS, characterized by a broad, extremely variable, and often overlapping spectrum of clinical features, comprises different disorders such as Cowden syndrome (CS, OMIM 158350), Banna yan-R ileyRuval caba syndrome (BRRS, OMIM 153480), PTEN-related Proteus syndrome (OMIM 176920), and PTEN-related Proteuslike syndrome.1-4 The PTEN germline mutations have also been described in ∼10%-20% of those with macrocephaly and autism spectrum disorder (ASD), as well as in a few cases of megalencephaly and hemimegalencephaly, and VATER syndrome (vertebral abnormalities, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia).1-3,5","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a5/89/tap-58-5-559.PMC10543923.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Turkish archives of pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5152/TurkArchPediatr.2023.23093","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0
Abstract
559 PTEN hamartoma tumor syndromes (PHTS) are a group of genetic disorders inherited in an autosomal dominant manner and linked to the germ line of the tumor suppressor gene PTEN located on 10q23 (OMIM 601728).1-4 The PHTS, characterized by a broad, extremely variable, and often overlapping spectrum of clinical features, comprises different disorders such as Cowden syndrome (CS, OMIM 158350), Banna yan-R ileyRuval caba syndrome (BRRS, OMIM 153480), PTEN-related Proteus syndrome (OMIM 176920), and PTEN-related Proteuslike syndrome.1-4 The PTEN germline mutations have also been described in ∼10%-20% of those with macrocephaly and autism spectrum disorder (ASD), as well as in a few cases of megalencephaly and hemimegalencephaly, and VATER syndrome (vertebral abnormalities, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial or renal dysplasia).1-3,5