A Case of BCL11A Related Dias-Logan Syndrome with Intellectual Disability and Epilepsy
Abstract number :
2.321
Submission category :
12. Genetics / 12A. Human Studies
Year :
2021
Submission ID :
1825492
Source :
www.aesnet.org
Presentation date :
12/1/2021 12:00:00 PM
Published date :
Nov 22, 2021, 06:43 AM
Authors :
Jeesuk Yu, MD, PhD - Dankook University Hospital; Seung Ho Kim – Pediatrics – Dankook University Hospital; Seung Hwan Oh – Laboratory Medicine – Pusan National University Yangsan Hospital; Go Hun Seo – 3 billion Inc; Woo Yeong Chung – Pediatrics – Busan Baik Hospital
Rationale: Nowadays, some of the genetic cause of epileptic encephalopathy can be found by extensive genetic study. Dias-Logan Syndrome which is BCL11A related intellectual disability is a rare autosomal dominant disorder. Neonatal hypotonia, diverse but also distinctive facial features, developmental delay, and behavior problems were reported as the common features of this syndrome. Additionally, seizures, growth delay, and autism spectrum disorder were also reported in some individuals.
Methods: We were able to diagnose BCL11A related intellectual disability in a 14-year-old boy through genetic testing using whole exome sequencing. Even though there were very few cases of such disease, this individual showed similar characteristics currently known for Dias-Logan Syndrome.
Genetics