HDAC4单倍剂量不足并非在所有受影响个体中都会导致智力残疾。
Haploinsufficiency of HDAC4 does not cause intellectual disability in all affected individuals.
作者信息
Wheeler Patricia G, Huang Dongli, Dai Zunyan
机构信息
Divison of Genetics, Nemours Children's Clinic, Orlando, Florida.
出版信息
Am J Med Genet A. 2014 Jul;164A(7):1826-9. doi: 10.1002/ajmg.a.36542. Epub 2014 Apr 8.
Haploinsufficiency of HDAC4 gene has been reported to result in brachydactyly-"mental retardation" syndrome (BDMR), a condition with significant intellectual impairment, brachydactyly type E, and typical facial features. Presented here are three individuals with haploinsufficiency of HDAC4 who have brachydactyly type E, non-dysmorphic facial features, and normal intelligence. This is in contradistinction to previous reports that haploinsufficiency of HDAC4 is sufficient to cause BDMR.
据报道，HDAC4基因单倍剂量不足会导致短指-智力发育迟缓综合征（BDMR），该病症伴有严重智力障碍、E型短指和典型面部特征。本文介绍了三名HDAC4基因单倍剂量不足的患者，他们患有E型短指、面部无畸形特征且智力正常。这与之前关于HDAC4基因单倍剂量不足足以导致BDMR的报道形成了对比。
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