Johnston Jennifer J, Sapp Julie C, Curry Cynthia, Horton Margaret, Leon Eyby, Cusmano-Ozog Kristina, Dobyns William B, Hudgins Louanne, Zackai Elaine, Biesecker Leslie G
Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Am J Med Genet A. 2014 Jan;164A(1):120-8. doi: 10.1002/ajmg.a.36212. Epub 2013 Nov 20.
The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including patients with atypical manifestations. None of the five patients had talipes and others also lacked cardinal TARP features of Robin sequence and atrial septal defect. All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism.
TARP综合征（马蹄内翻足、房间隔缺损、罗宾序列征和永存左上腔静脉）是一种X连锁疾病，在两个家族中被确定由RBM10基因突变引起，并在随后的病例报告中得到证实。最初的两个家族在表型上非常相似，均有一致的早期致死性，尽管一份确诊病例报告显示有患者存活至儿童期。在此，我们报告来自三个新确认家族的五名患者，包括有非典型表现的患者。这五名患者均无马蹄内翻足，其他患者也缺乏罗宾序列征和房间隔缺损等TARP综合征的主要特征。所有三个家族均显示新发突变，其中一个家族有两例复发，并证实存在母体嵌合现象。
