PDF(Pubmed)
Abstract：
The implementation of array comparative genomic hybridisation (array-CGH) allows us to describe new microdeletion/microduplication syndromes which were previously not identified. 9q21.13 microdeletion syndrome is a genetic condition due to the loss of a critical genomic region of approximately 750kb and includes several genes, such as RORB and TRPM6. Here, we report a case of a 7-year-old boy affected by 9q21.13 microdeletion syndrome. He presents with global developmental delay, intellectual disability, autistic behaviour, seizures and facial dysmorphism. Moreover, he has severe myopia, which was previously reported in only another patient with 9q21.13 deletion, and brain anomalies which were never described before in 9q21.13 microdeletion syndrome. We also collect 17 patients from a literature search and 10 cases from DECIPHER database with a total number of 28 patients (including our case). In order to better investigate the four candidate genes RORB, TRPM6, PCSK5, and PRUNE2 for neurological phenotype, we make, for the first time, a classification in four groups of all the collected 28 patients. This classification is based both on the genomic position of the deletions included in the 9q21.3 locus deleted in our patient and on the different involvement of the four-candidate gene. In this way, we compare the clinical problems, the radiological findings, and the dysmorphic features of each group and of all the 28 patients in our article. Moreover, we perform the genotype-phenotype correlation of the 28 patients to better define the syndromic spectrum of 9q21.13 microdeletion syndrome. Finally, we propose a baseline ophthalmological and neurological monitoring of this syndrome.
摘要：
阵列比较基因组杂交（array-CGH）的实施使我们能够描述以前未发现的新的微缺失/微重复综合征。9q21.13微缺失综合征是一种遗传性疾病，由于丢失了大约750kb的关键基因组区域，包括几个基因，如RORB和TRPM6。这里,我们报告一例7岁男孩受9q21.13微缺失综合征影响。他提出了全球发育迟缓，智力残疾,自闭症行为,癫痫发作和面部畸形。此外，他有严重的近视,先前仅在另一位9q21.13缺失的患者中报告，和在9q21.13微缺失综合征中从未描述过的脑异常。我们还从文献检索中收集了17例患者，从DECIPHER数据库中收集了10例患者，总共28例患者（包括我们的病例）。为了更好地研究4个候选基因RORB,TRPM6，PCSK5和PRUNE2用于神经系统表型，我们制造，第一次,对所有28例患者进行四组分类。该分类基于我们患者中缺失的9q21.3基因座中包含的缺失的基因组位置以及四个候选基因的不同参与。这样,我们比较临床问题，放射学发现，以及我们文章中每组和所有28例患者的畸形特征。此外，我们对28例患者进行基因型-表型相关性分析,以更好地定义9q21.13微缺失综合征的综合征谱.最后,我们建议对该综合征进行眼科和神经学基线监测.
