Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2
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DOI：
10.1002/ajmg.a.31110
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发表时间：
2006-03-01
影响因子：
2
通讯作者：
Scherer, SW
中科院分区：
文献类型：
--
作者：
Zeesman, S;Nowaczyk, MJM;Scherer, SW
我们报告了一个染色体7 q31-q32缺失的女孩的详细的临床、细胞遗传学和分子生物学发现。这个孩子有严重的交流障碍，有明显的运动障碍、畸形特征和轻度发育迟缓。她不能咳嗽，打喷嚏。或者自发地笑。她的缺失是在父系遗传的染色体上，包括FOXP 2基因，该基因最近与言语和语言障碍有关，至少在其他三个已发表的病例中与类似的运动障碍有关。我们推测，我们的病人的沟通障碍和orthopathic缺陷是由于FOXP 2的单倍不足，她的畸形和发育迟缓是一个结果，缺乏其他基因参与微缺失。我们建议，这个病人，连同其他文献报道，可能会定义一个新的连续基因缺失综合征，包括7 q31-FOXP 2区域。该区域的细胞遗传学和分子生物学分析应考虑用于其他表现出类似特征的个体。(c)2006 Wiley-Liss，Inc.
We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze. or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar from of oromotor dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displayng similar characteristics. (c) 2006 Wiley-Liss, Inc.