遺伝症候群と遺伝子治療のジャーナル
オープンアクセス

概要

Peters Plus Syndrome: Another Way to See a Known Syndrome

Elisabetta Grande, Serena Ciabattoni, Elena Andreucci, Chiara Romano, Gianluca Capecchi, Silvia Ferranti and Salvatore Grosso

Peters Plus Syndrome is a rare autosomic recessive disorder, clinically characterized by abnormal formation of various structures including anterior eye chamber, genitourinary tract, skeletal system and central nervous system. PPS is due to defective B3GALTL gene encoding for a glycosyl-transferase that plays a crucial role during embryogenesis. Here we report on a 12-year old boy affected by Peters Plus syndrome who showed peculiar additional features such as absence epilepsy and recurrent bacterial infections.