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8p23.1重复综合征：关键区间缩小至1.80兆碱基对。

8p23.1 duplication syndrome: narrowing of critical interval to 1.80 Mbp.

作者信息

Weber Axel, Köhler Angelika, Hahn Andreas, Müller Ulrich

机构信息

Institut für Humangenetik, Justus-Liebig-Universität, Schlangenzahl 14, 35392 Giessen, Germany.

Klinik für Kinderneurologie und Sozialpädiatrie, Justus-Liebig-Universität, Giessen, Germany.

出版信息

Mol Cytogenet. 2014 Dec 9;7(1):94. doi: 10.1186/s13039-014-0094-3. eCollection 2014.

DOI:10.1186/s13039-014-0094-3
PMID:25520754
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4268894/
Abstract

BACKGROUND

A 3.68 Mbp duplication of 8p23.1 defines the 8p23.1 duplication syndrome. The main features of this syndrome are developmental delay and/or learning problems.

RESULTS

Here we present a patient with a 1.80 Mbp duplication in 8p23.1 and characteristic signs and symptoms of the syndrome, including delay of motor and speech development and intellectual disability.

DISCUSSION

The case indicates that genes within this interval, in particular dosage sensitive genes SOX7 and TNKS1, and possibly MIR124-1 and MIR598 as well suffice to cause the pathognomonic features of the 8p23.1 duplication syndrome.

摘要

背景

8p23.1区域3.68兆碱基对的重复定义了8p23.1重复综合征。该综合征的主要特征是发育迟缓及/或学习问题。

结果

本文报告了一名患者，其8p23.1区域存在1.80兆碱基对的重复，并伴有该综合征的典型体征和症状，包括运动和语言发育迟缓以及智力残疾。

讨论

该病例表明，此区间内的基因，尤其是剂量敏感基因SOX7和TNKS1，以及可能还有MIR124-1和MIR598，足以导致8p23.1重复综合征的特征性表现。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa1d/4268894/7ca5a2b484a9/13039_2014_94_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa1d/4268894/48507b8babb8/13039_2014_94_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa1d/4268894/7ca5a2b484a9/13039_2014_94_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa1d/4268894/48507b8babb8/13039_2014_94_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fa1d/4268894/7ca5a2b484a9/13039_2014_94_Fig2_HTML.jpg

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