Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation
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DOI：
10.1016/j.ejmg.2010.11.003
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发表时间：
2011-03-01
影响因子：
1.9
通讯作者：
Andrieux, Joris
中科院分区：
文献类型：
--
作者：
Dubourg, Christele;Sanlaville, Damien;Andrieux, Joris
染色体17q21.31微缺失是最早通过染色体微阵列鉴定的基因组疾病之一。我们在这里报告的临床和分子特征的一个新的系列14法国患者与这种微缺失综合征。最常见的临床特征是张力减退、发育迟缓和面部畸形，但舟状头畸形、产前缺血性梗死和感知性耳聋也有描述。父母的基因分型结果显示，遗传异常的父母携带H2倒位多态性，证实H2等位基因是必要的，但不足以产生17q21.31微缺失。以前报道的17q21.31微缺失综合征患者的分子分析确定了一个493 kb的基因组片段，在考虑到正常对照中频繁的拷贝数变异后，该片段在大多数患者中被删除，但在我们的一名患者中，删除的间隔明显较小（205 kb），仅包括MAPT，STH和KIAA1267基因。由于该患者呈现17q21.31综合征的经典表型，这些数据使得有可能定义一个新的160.8 kb的最小关键区域，加强了MAPT基因参与该综合征的证据。(C)2010年Elsevier Masson SAS。All rights reserved.
Chromosome 17q21.31 microdeletion was one of the first genomic disorders identified by chromosome microarrays. We report here the clinical and molecular characterization of a new series of 14 French patients with this microdeletion syndrome. The most frequent clinical features were hypotonia, developmental delay and facial dysmorphism, but scaphocephaly, prenatal ischemic infarction and perception deafness were also described. Genotyping of the parents showed that the parent from which the abnormality was inherited carried the H2 inversion polymorphism, confirming that the H2 allele is necessary, but not sufficient to generate the 17q21.31 microdeletion. Previously reported molecular analyses of patients with 17q21.31 microdeletion syndrome defined a 493 kb genomic fragment that was deleted in most patients after taking into account frequent copy number variations in normal controls, but the deleted interval was significantly smaller (205 kb) in one of our patients, encompassing only the MAPT, STH and KIAA1267 genes. As this patient presents the classical phenotype of 17q21.31 syndrome, these data make it possible to define a new minimal critical region of 160.8 kb, strengthening the evidence for involvement of the MAPT gene in this syndrome. (C) 2010 Elsevier Masson SAS. All rights reserved.