Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype

摘要

To the Editor: CHARGE syndrome (CS) is an autosomal dominant disorder with involvement of several organs and systems (central nervous system, eye, ear, nose and mediastinal organs). Two sets of consensus criteria, that do not fully overlap, were proposed by Blake and Verloes, respectively (1). The causative gene for CS is CHD7 (located on chromosome 8ql2.1), mutated in 60% of case series; splice-site mutations are detected in 11% of patients (2). We describe two patients, sharing some features of CHARGE phenotypic spectrum, with new, de novo, intronic mutations in CHD7.