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与皮质盲、唇裂、中枢神经系统异常及发育迟缓相关的3p21.31区域3.1兆碱基微缺失。

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

作者信息

Haldeman-Englert Chad R, Gai Xiaowu, Perin Juan Carlos, Ciano Melissa, Halbach Sara S, Geiger Elizabeth A, McDonald-McGinn Donna M, Hakonarson Hakon, Zackai Elaine H, Shaikh Tamim H

机构信息

Division of Human Genetics, Bioinformatics Core, Center for Applied Genomics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

出版信息

Eur J Med Genet. 2009 Jul-Aug;52(4):265-8. doi: 10.1016/j.ejmg.2008.11.005. Epub 2008 Dec 13.

DOI:10.1016/j.ejmg.2008.11.005
PMID:19100872
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4391973/
Abstract

We report a 3.1-Mb de novo deletion of 3p21.31 in a 3.5-year-old female with cortical blindness, cleft lip, CNS abnormalities, and gross developmental delays. Examination of the region showed approximately 80 genes to be involved in the deletion. Functional analysis of the deleted genes suggests that several of them may be important in normal neuronal maturation and function. Thus, haploinsufficiency of one or more of these genes could potentially contribute to the observed phenotype. Our patient does not have clinical features that overlap completely with either proximal or distal 3p deletions, suggesting that the deletion seen in our patient leads to a distinct clinical phenotype not described previously.

摘要

我们报告了一名3.5岁女性，其3p21.31区域存在3.1兆碱基的新生缺失，该患儿患有皮质盲、唇裂、中枢神经系统异常和严重发育迟缓。对该区域的检查显示约80个基因参与了此次缺失。对缺失基因的功能分析表明，其中一些基因可能在正常神经元成熟和功能中起重要作用。因此，这些基因中一个或多个的单倍剂量不足可能是导致所观察到的表型的潜在原因。我们的患者没有与近端或远端3p缺失完全重叠的临床特征，这表明我们患者中观察到的缺失导致了一种先前未描述的独特临床表型。

相似文献

[1]
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay.

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[3]
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[4]
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[5]
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[6]
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[7]
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[10]
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J Hum Genet. 2003

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Neuron. 2003-3-6

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