Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities-Reference-Cited by-同舟云学术

Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities

Published:2017-09-28 Issue:12 Volume:92 Page:E653-E656
ISSN:0361-8609
Container-title:American Journal of Hematology
language:en
Short-container-title:Am J Hematol

Author:

Cai Tao¹²^ORCID,Chen Xiang³,Li Jinchen¹,Xiang Bingwu³,Yang Liu³,Liu Yidian³,Chen Qiuli⁴,He Zhouwen⁵,Sun Kevin⁶,Liu P. Paul⁶

Affiliation:

1. Institute of Genomic Medicine; Wenzhou Medical University; Wenzhou Zhejiang China

2. National Institute of Dental and Craniofacial Research, NIH; Bethesda Maryland

3. Physical Medicine and Rehabilitation Center, Second Affiliated Hospital of Wenzhou Medical University and Yuying Children's Hospital; Wenzhou Zhejiang China

4. Genetic Metabolic CentraLand of Laboratory; Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region; Nanning Guangxi China

5. Department of Neurology; First Affiliated Hospital of Nanhua University; Hengyang Hunan China

6. Oncogenesis and Development Section; National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH); Bethesda Maryland

Funder

Chinese Ministry of Health Project

intramural Research Programs of NIDCR and NHGRI, NIH

Publisher

Wiley

Subject

Hematology

Reference6 articles.

1. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15;Menzel;Nat Genet.,2007

2. BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations;Basak;J Clin Invest.,2015

3. Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility;Bi;Hum Mutat.,2012

4. 2p15-p16.1 microdeletions encompassing and proximal to BCL11A are associated with elevated HbF in addition to neurologic impairment;Funnell;Blood.,2015

5. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A;Sankaran;Science.,2008

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