An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms
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 (COX4...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/353028 |
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| author | Ivan Y. Iourov Svetlana G. Vorsanova Oxana S. Kurinnaia Yuri B. Yurov |
| author_facet | Ivan Y. Iourov Svetlana G. Vorsanova Oxana S. Kurinnaia Yuri B. Yurov |
| author_sort | Ivan Y. Iourov |
| collection | DOAJ |
| description | 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, and SNTA1) 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 by ASXL1 mutations. An in silico evaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect the ASXL1 gene, in contrast to the other disease-causing genes. As a result, it was suggested that ASXL1 loss 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. |
| format | Article |
| id | doaj-art-a61ac85ce27f4e5ab2d2cc731d8132a1 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-a61ac85ce27f4e5ab2d2cc731d8132a12025-02-03T05:53:20ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/353028353028An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial DysmorphismsIvan Y. Iourov0Svetlana G. Vorsanova1Oxana S. Kurinnaia2Yuri B. Yurov3Mental Health Research Center, Russian Academy of Medical Sciences, Moscow 119152, RussiaMental Health Research Center, Russian Academy of Medical Sciences, Moscow 119152, RussiaMental Health Research Center, Russian Academy of Medical Sciences, Moscow 119152, RussiaMental Health Research Center, Russian Academy of Medical Sciences, Moscow 119152, RussiaWe 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, and SNTA1) 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 by ASXL1 mutations. An in silico evaluation of the deleted genomic region has shown that benign genomic variations have never been observed to affect the ASXL1 gene, in contrast to the other disease-causing genes. As a result, it was suggested that ASXL1 loss 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.http://dx.doi.org/10.1155/2013/353028 |
| spellingShingle | Ivan Y. Iourov Svetlana G. Vorsanova Oxana S. Kurinnaia Yuri B. Yurov An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms Case Reports in Genetics |
| title | An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms |
| title_full | An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms |
| title_fullStr | An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms |
| title_full_unstemmed | An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms |
| title_short | An Interstitial 20q11.21 Microdeletion Causing Mild Intellectual Disability and Facial Dysmorphisms |
| title_sort | interstitial 20q11 21 microdeletion causing mild intellectual disability and facial dysmorphisms |
| url | http://dx.doi.org/10.1155/2013/353028 |
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