Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
Amino-Terminal Microdeletion within the CNTNAP2 Gene Associated with Variable Expressivity of Speech Delay.
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DOI：
10.1155/2012/172408
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发表时间：
2012
影响因子：
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通讯作者：
Love DR
中科院分区：
文献类型：
--
作者：
Al-Murrani A;Ashton F;Aftimos S;George AM;Love DR
接触素相关蛋白样2（CNTNAP 2）基因在发育中的人脑额叶回路中高度表达。该基因的突变与几种神经发育障碍有关，如自闭症和特定的语言障碍。在这里，我们描述了CNTNAP 2基因内的一个450 kb的缺失，这是母系遗传的两个男性兄弟姐妹，但具有可变的临床表型。这种变异性是在文献中报告的有限数量的其他病例的背景下描述的。框内基因内缺失去除了CNTNAP 2蛋白的一个关键结构域，这种情况也突出了基因型和表型相关性的挑战。
The contactin-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 the CNTNAP2 gene 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.