BCL11A-Related Intellectual Disability.

TY - CHAP

T1 - BCL11A-Related Intellectual Disability.

AU - Peron, Angela

AU - Bradbury, Kimberley

AU - Viskochil, David H

AU - Dias, Cristina

PY - 2019/9/26

Y1 - 2019/9/26

N2 - 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.

AB - 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.

KW - Dias-Logan Syndrome

KW - Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin

KW - B-cell lymphoma/leukemia 11A

KW - BCL11A

KW - BCL11A-Related Intellectual Disability

M3 - Chapter

T3 - GeneReviews

BT - GeneReviews

PB - University of Washington

ER -