Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome
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DOI：
10.1159/000328135
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发表时间：
2010-01-01
影响因子：
1.1
通讯作者：
Clerici, D.
中科院分区：
文献类型：
--
作者：
Bedeschi, M. F.;Colombo, L.;Clerici, D.
货车登恩德-古普塔综合征（VDEGS）是一种先天性疾病，其特征是颅面和骨骼表现，特别是睑裂小睑、颧骨和上颌骨发育不全、独特的鼻子、蜘蛛弓指和手和脚的细长骨。到目前为止，只有24名患者被描述。一般认为该综合征是由常染色体隐性遗传方式传播的，尽管最近提出了遗传异质性的证据。我们报告一个女孩从出生到3年的生活与一组特殊的轻微异常，手和脚的arachnocamptodactyly，与22q11.12缺失相关的VDEGS特征。最近，VDEGS基因被定位于DiGeorge综合征22q11.2区域，并鉴定出SCARF 2基因的纯合突变。我们现在报告的第一个病人VDEGS由于复合杂合性常见的22q11.2微缺失和半合子SCARF 2剪接位点突变。版权所有（C）2011 S. Karger AG，巴塞尔
Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation. Copyright (C) 2011 S. Karger AG, Basel