BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

doi:10.1016/j.ajhg.2016.05.030

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Article

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

American journal of human genetics - 4 Aug 2016

Dias Cristina, Estruch Sara B, Graham Sarah A, McRae Jeremy, Sawiak Stephen J, Hurst Jane A, Joss Shelagh K, Holder Susan E, Morton Jenny E V, Turner Claire, Thevenon Julien, Mellul Kelly, Sánchez-Andrade Gabriela, Ibarra-Soria Ximena, Deriziotis Pelagia, Santos Rui F, Lee Song-Choon, Faivre Laurence, Kleefstra Tjitske, Liu Pentao, Hurles Mathew E, Fisher Simon E, Logan Darren W

Abstract excerpt

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that...

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PMID: 27453576
DOI: 10.1016/j.ajhg.2016.05.030
PMCID: PMC4974071

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