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首页> 外文期刊>Case Reports in Genetics >An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
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An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms

机译：导致轻度智障和面部畸形的间隙性20q11.21微缺失

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We report a case of an interstitial chromosome 20q11.21 microdeletion in a 7-year-old male child presenting with mild intellectual disability and facial dysmorphisms. Array comparative genomic hybridization (CGH) has shown that the deletion resulted in the loss of 68 genes, among which 5 genes (COX4I2,MYLK2,ASXL1,DNMT3B, andSNTA1) are disease causing. The size of the deletion was estimated to span 2.6 Mb. Only three cases of deletions encompassing this chromosomal region have been reported. The phenotype of the index patient was found to resemble the mildest cases of Bohring-Opitz syndrome that is caused byASXL1mutations. Anin silicoevaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect theASXL1gene, in contrast to the other disease-causing genes. As a result, it was suggested thatASXL1loss is likely to be the main cause of the phenotypic manifestations. The present case report indicates that a loss of the disease-causing gene can produce a milder phenotype of a single gene condition.
机译：我们报告了一个7岁的男婴间质染色体20q11.21微缺失的情况，该病例表现为轻度智力障碍和面部畸形。阵列比较基因组杂交（CGH）结果表明，缺失导致68个基因的丢失，其中5个基因（COX4I2，MYLK2，ASXL1，DNMT3B和SNTA1）引起了疾病。缺失的大小估计为2.6 Mb。仅报道了涵盖该染色体区域的缺失的三种情况。发现该索引患者的表型与ASXL1突变引起的最轻微的Bohring-Opitz综合征病例相似。对缺失的基因组区域进行的计算机分析显示，与其他致病基因相比，从未观察到良性基因组变异会影响ASXL1基因。结果表明，ASXL1丢失很可能是表型表现的主要原因。本病例报告表明，致病基因的缺失可以产生单一基因状况的较温和表型。

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