A 3.9-Mb Deletion on 2p11.2 Comprising the REEP1 Gene Causes Early-Onset Atypical Parkinsonism.

Abstract

Deletions of 2p11.2-p12 are exceedingly rare with few reported cases.1,2 Most patients display a mild-to-moderate developmental delay and intellectual disability. Additional manifestations are happy disposition, tendency to obesity, and minor dysmorphic features, such as short stature, prominent forehead, hypertelorism, broad nasal bridge, or large low-set ears. Occasionally congenital malformations are present, such as chest and spine abnormalities, urogenital malformations, or atrial septal defect.1 In this study, we report a patient presenting with early-onset atypical parkinsonism carrying a heterozygous 3.9-Mb deletion on 2p11.2. The authors thank the patient and her parents for their support of this work.