Chromosomal 7q31 deletions have been described in individuals with variable neurodevelopmental phenotypes including speech and language impairment. These copy number variants usually encompass FOXP2, haploinsufficiency of which represents a widely acknowledged cause for specific speech and language disorders. By chromosomal microarray analysis we identified a 4.7 Mb microdeletion at 7q31.2q31.31 downstream of FOXP2 in three family members presenting with variable speech, language and neurodevelopmental phenotypes. The index individual showed delayed speech development with impaired speech production, reduced language comprehension, and additionally learning difficulties, microcephaly, and attention deficit. His younger sister had delayed speech development with impaired speech production and partially reduced language comprehension. Their mother had attended a school for children with speech and language deficiencies and presented with impaired articulation. The deletion had occurred de novo in the mother, includes 15 protein‐coding genes and is located in close proximity to the 3′ end of FOXP2. Though a novel locus at 7q31.2q31.31 associated with mild neurodevelopmental and more prominent speech and language impairment is possible, the close phenotypic overlap with FOXP2‐associated speech and language disorder rather suggests a positional effect on FOXP2 expression and function.

中文翻译：

---

FOXP2下游的7q31.2q31.31缺失在一个言语和语言障碍的家庭中分离。

染色体7q31缺失已在具有多种神经发育表型（包括言语和语言障碍）的个体中进行了描述。这些拷贝数变体通常包含FOXP2，其单倍不足不足是引起特定言语和语言障碍的公认原因。通过染色体微阵列分析，我们确定了FOXP2下游7q31.2q31.31处有4.7 Mb微缺失在三个具有可变语音，语言和神经发育表型的家庭成员中。索引个体显示出语音发展迟缓，语音产生受损，语言理解能力降低以及学习困难，小头畸形和注意力缺陷。他的妹妹由于语言能力受损和语言理解能力下降而延迟了语言发展。他们的母亲曾为一所语言和语言缺陷的儿童上过一所学校，并且发音能力受损。该缺失是在母亲中从头发生的，包括15个蛋白质编码基因，并且位于FOXP2的3'末端附近。。尽管可能在7q31.2q31.31出现一个与轻度神经发育相关的新基因座，并且语音和语言障碍更为突出，但与FOXP2相关的语音和语言障碍的表型重叠非常紧密，这表明对FOXP2的表达和功能有位置影响。