کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8962719 | 1646595 | 2018 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A de novo 921â¯Kb microdeletion at 11q13.1 including neurexin 2 in a boy with developmental delay, deficits in speech and language without autistic behaviors
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موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
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چکیده انگلیسی
Microdeletions at 11q13.1 are very rare. At present only two patients with 11q13.1 deletion involving neurexin 2 (NRXN2) have been reported. Both patients exhibited autistic features, which supported the role of NRXN2 in autism pathogenicity. It is currently unknown whether heterozygous deletion of NRXN2 is of high penetrance or if it is sufficient to result in autism behaviors. Here we reported a 2-year-9-month old boy with developmental delay, short stature, significant language delay and other congenital anomalies. In contrast to previously reported cases, the boy did not present with autistic behaviors and did not meet the clinical diagnosis of autism. A de novo 921â¯kb microdeletion at 11q13.1 was detected by chromosomal microarray analysis (CMA). Whole Exome Sequencing (WES) was also employed for our patient. The deletion was confirmed and no additional pathogenic variants were detected. We compared our patient's genomic information and clinical features with those of two previously reported individuals. Three patients shared similar deleted intervals and had similar clinical features except for autistic behaviors. This study suggested that NRXN2 gene had incomplete penetrance for autistic behavioral phenotype. The finding is of interest for genetic counseling and clinical management to patients with NRXN2 defects.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 10, October 2018, Pages 607-611
Journal: European Journal of Medical Genetics - Volume 61, Issue 10, October 2018, Pages 607-611
نویسندگان
Haiming Yuan, Xiaoxiu Li, Qingming Wang, Wei Yang, Jiage Song, Xizi Hu, Yiping Shen,