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首页> 外文期刊>Case Reports in Genetics >Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay
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Amino-Terminal Microdeletion within theCNTNAP2Gene Associated with Variable Expressivity of Speech Delay

机译：与语音延迟可变表达相关的CNTNAP2基因内的氨基末端微缺失

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Thecontactin-associated protein-like 2(CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within theCNTNAP2gene that is maternally inherited in two male siblings, but with a variable clinical phenotype. This variability is described in the context of a limited number of other cases reported in the literature. The in-frame intragenic deletion removes a critical domain of the CNTNAP2 protein, and this case also highlights the challenges of correlating genotype and phenotype.
机译：接触蛋白相关蛋白样2（CNTNAP2）基因在人类大脑的额叶回路中高表达。该基因的突变与几种神经发育障碍如自闭症和特定语言障碍有关。在这里，我们描述了CNTNAP2基因内450 akb的缺失，该缺失在两个男性同胞中母系遗传，但是具有可变的临床表型。在文献中报道的其他数量有限的情况下描述了这种可变性。框内基因内缺失删除了CNTNAP2蛋白的关键结构域，这种情况也凸显了相关基因型和表型的挑战。

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