BCL11A-Related Intellectual Disability.

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

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


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.
Original languageEnglish
Title of host publicationGeneReviews
PublisherUniversity of Washington
Publication statusPublished - 26 Sept 2019

Publication series



  • Dias-Logan Syndrome
  • Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin
  • B-cell lymphoma/leukemia 11A
  • BCL11A
  • BCL11A-Related Intellectual Disability


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