What question did this study set out to answer?

To identify the causal role of BCL11A mutations in human intellectual disability and investigate how BCL11A haploinsufficiency impairs neurodevelopment at cellular, molecular, and behavioral levels.

July 21, 2016The American Journal of Human GeneticsOpen Access

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

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Authors

CDCristina DiasGreat Ormond Street Hospital for Children NHS Foundation Trust SESara B. EstruchMax Planck Institute for Psycholinguistics SGSarah A. GrahamBirmingham Women’s and Children’s NHS Foundation Trust

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Implication

Functional genomics study reveals that BCL11A haploinsufficiency drives microcephaly and cognitive deficits in human and mouse models, implicating transcription dysregulation in neurodevelopment.

Key Points

To identify the causal role of BCL11A mutations in human intellectual disability and investigate how BCL11A haploinsufficiency impairs neurodevelopment at cellular, molecular, and behavioral levels.
Identified de novo heterozygous missense, nonsense, and frameshift variants in BCL11A from intellectual disability cohorts.
Assessed the effects of patient-derived amino-terminal missense mutations on BCL11A cellular localization, dimerization, and transcriptional regulatory activity.
Characterized cognitive, social, neuroanatomical, and cortical/hippocampal transcriptional phenotypes in Bcl11a-haploinsufficient mouse models.
Patient-derived amino-terminal missense mutations disrupted BCL11A protein localization, dimerization, and transcriptional repression, consistent with a loss-of-function mechanism.
Bcl11a haploinsufficiency in mice recapitulated the human syndrome, causing microcephaly, impaired cognition, abnormal social behavior, and shared aberrant transcriptional signatures in the cortex and hippocampus.

Cite This Study

Dias et al. (2016) studied this question.

synapsesocial.com/papers/6aa9223c6dc8754dbe62df9b https://doi.org/10.1016/j.ajhg.2016.05.030

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Implication

Functional genomics study reveals that BCL11A haploinsufficiency drives microcephaly and cognitive deficits in human and mouse models, implicating transcription dysregulation in neurodevelopment.

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

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Implication

Key Points

Cite This Study

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription

Discussion

Member takes

Implication

Key Points

Cite This Study

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