King's College London

Research portal

BCL11A-Related Intellectual Disability.

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Angela Peron, Kimberley Bradbury, David H Viskochil, Cristina Dias

Original languageEnglish
Title of host publicationGeneReviews
PublisherUniversity of Washington
Published26 Sep 2019

Publication series

NameGeneReviews

King's Authors

Abstract

CLINICAL CHARACTERISTICS: BCL11A-related intellectual disability (BCL11A-ID) is characterized by developmental delay / intellectual disability of variable degree, neonatal hypotonia, microcephaly, distinctive but variable facial characteristics, behavior problems, and asymptomatic persistence of fetal hemoglobin. Growth delay, seizures, and autism spectrum disorder have also been reported in some affected individuals. DIAGNOSIS/TESTING: The diagnosis of BCL11A-ID is established in a proband with suggestive clinical and laboratory findings and a heterozygous pathogenic variant in BCL11A identified by molecular genetic testing. MANAGEMENT: Treatment of manifestations: Treatment is primarily supportive and dictated by symptoms. Standard antiepileptic medication for seizure disorder; standard treatment for abnormal vision and/or strabismus, sleep disturbance, scoliosis, joint laxity, gastroesophageal reflux disease (GERD), constipation, and developmental issues. Surveillance: Assessment of growth parameters, feeding difficulties, GERD, constipation, scoliosis, developmental progress, and behavior at each visit. Monitor seizures as clinically indicated. Assessment of vision and eye alignment as needed. GENETIC COUNSELING: BCL11A-ID is inherited in an autosomal dominant manner; however, most affected individuals have the disorder as the result of a de novo BCL11A pathogenic variant. Once the BCL11A pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible.

View graph of relations

© 2020 King's College London | Strand | London WC2R 2LS | England | United Kingdom | Tel +44 (0)20 7836 5454