Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
Clinical and Genetic Heterogeneity of the 15q13.3 Microdeletion Syndrome
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DOI：
10.1159/000443343
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发表时间：
2015-01-01
影响因子：
1.1
通讯作者：
Leipoldt, Michael
中科院分区：
文献类型：
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作者：
Hassfurther, Ariane;Komini, Eleni;Leipoldt, Michael
15q13.3微缺失是一种复发性CNV，推测是由15号染色体片段重复之间的NAHR介导的。15q13.3缺失和重复与广泛的临床表现相关，如智力缺陷、癫痫发作、自闭症、语言和发育迟缓、神经精神障碍以及表现出不完全的表达和表达能力的行为问题。本研究包括对106例携带杂合缺失的症状性患者以及21例携带重复的患者进行评估，这些患者在以前的研究中已经描述过。分析表明，不同的关键症状和常见的发生的表现相当异质性。此外，还新增8名患者。复杂的熟悉的联系给症状表现的复杂性提供了新的见解。在以往的研究中，人们对缺失断点的性质和确切位置有不同的看法。在这里，我们表明，不是CHRNA7和CHRFAM7A，而是FAM7A或GOLGA 8，作为与我们的患者有关的断点区域。该缺失被描述为大小不均匀。然而，我们假设，不仅不同的断点，而且aCGH分析15号染色体上的不精确性，由于片段重复占的大小的变异性。(C)2016 S. Karger AG，巴塞尔
The 15q13.3 microdeletion is a recurrent CNV, presumably mediated by NAHR between segmental duplications in chromosome 15. The 15q13.3 deletion and duplication are associated with a wide range of clinical manifestations, such as intellectual deficits, seizures, autism, language and developmental delay, neuropsychiatric impairments, and behavioral problems illustrating incomplete penetrance and expressivity. This study comprises an evaluation of 106 symptomatic patients carrying the heterozygous deletion, as well as of 21 patients carrying the duplication, who have been described in previous studies. The analysis shows considerable heterogeneity for the manifestation of different key symptoms and familiar occurrence. Furthermore, 8 new patients are introduced. Convoluted familiar connections give new insights into the complexity of symptomatic manifestation. In previous studies, different opinions have been expressed as to the nature and precise location of the deletion breakpoints. Here, we show that not CHRNA7 and CHRFAM7A, but rather FAM7A or GOLGA8, serve as breakpoint regions concerning our patients. The deletion is described as heterogeneous in size. However, we assume that not only different breakpoints but also the imprecision of aCGH analysis on chromosome 15 due to segmental duplications accounts for the variability in size. (C) 2016 S. Karger AG, Basel