The First Familiar Case of PTEN-Related Disorder Reported in Albania.

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