Neurological Manifestations of 2q31 Microdeletion Syndrome

ABSTRACT Microdeletion of 2q31 involving the HOXD gene cluster is a rare syndrome. The deletion of the HOXD gene cluster is thought to result in skeletal anomalies in these patients. HOX genes encode highly conserved transcription factors that control cell fate and the regional identities along the primary body and limb axes. We experienced a new patient with 2q31 microdeletion encompassing the HOXD gene cluster and some neighboring genes including the ZNF385B. The patient showed digital anomalies, growth failure, epileptic seizures, and intellectual disability. MRI showed delayed myelination and low signal intensity in the basal ganglia. The ZNF385B is a zinc finger protein expressed in brain. Disruption of ZNF385B was suspected to be responsible for the neurological features of this syndrome.

http://onlinelibrary.wiley.com/resolve/doi?DOI=10.1111%2Fcga.12212

Source: Congenital Anomalies - December 31, 2016 Category: Genetics & Stem Cells Authors: Nobuhiko Okamoto, Sadami Kimura, Keiko Shimojima, Toshiyuki Yamamoto Tags: Case Report Source Type: research