The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer
The <i>int22h1/int22h2</i>-mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the sy...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-06-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/6/860 |
| _version_ | 1797531436252659712 |
|---|---|
| author | Rami A. Ballout Ayman W. El-Hattab |
| author_facet | Rami A. Ballout Ayman W. El-Hattab |
| author_sort | Rami A. Ballout |
| collection | DOAJ |
| description | The <i>int22h1/int22h2</i>-mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of the syndrome, affected males exhibit more severe phenotypes compared with heterozygous females. A unique distinguishing feature of the syndrome across the sexes, however, is a peculiar combination of recurrent sinopulmonary infections and atopy exclusively seen in a subset of affected males. In addition to the ‘typical’ 0.5 Mb duplication detected in most cases reported to date with the syndrome, a shortened centromeric version, and another 0.2 Mb telomerically shifted one, have been recently identified, with most detected duplications being maternally inherited, except for three recent cases found to have de novo duplications. Interestingly, a recently reported case of an affected male suggests a possible association of the syndrome with multiple malignancies, an observation that has been recently replicated in two pediatric patients. As a result, a better understanding of the pathogenesis of <i>int22h1/int22h2</i>-mediated Xq28 duplication syndrome may grant us a better understanding of the sex-specific differences in immunological responses, as well as the potential role of the genes involved by the duplication, in oncogenesis. |
| first_indexed | 2024-03-10T10:43:47Z |
| format | Article |
| id | doaj.art-3a1ba45b735e477aa30947b404b63d35 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T10:43:47Z |
| publishDate | 2021-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-3a1ba45b735e477aa30947b404b63d352023-11-21T22:45:22ZengMDPI AGGenes2073-44252021-06-0112686010.3390/genes12060860The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and CancerRami A. Ballout0Ayman W. El-Hattab1Lipoprotein Metabolism Section, Translational Vascular Medicine Branch, National Heart, Lung and Blood Institute (NHLBI), National Institutes of Health (NIH), Bethesda, MD 20814, USADepartment of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah P. O. Box 27272, United Arab EmiratesThe <i>int22h1/int22h2</i>-mediated Xq28 duplication syndrome is a rare X-linked intellectual disability syndrome (XLIDS) arising from a duplication of the segment between intron 22 homologous regions 1 and 2, on the q28 subregion of the X chromosome. The main clinical features of the syndrome include intellectual disability, neurobehavioral abnormalities, and dysmorphic facial features. Due to the X-linked nature of the syndrome, affected males exhibit more severe phenotypes compared with heterozygous females. A unique distinguishing feature of the syndrome across the sexes, however, is a peculiar combination of recurrent sinopulmonary infections and atopy exclusively seen in a subset of affected males. In addition to the ‘typical’ 0.5 Mb duplication detected in most cases reported to date with the syndrome, a shortened centromeric version, and another 0.2 Mb telomerically shifted one, have been recently identified, with most detected duplications being maternally inherited, except for three recent cases found to have de novo duplications. Interestingly, a recently reported case of an affected male suggests a possible association of the syndrome with multiple malignancies, an observation that has been recently replicated in two pediatric patients. As a result, a better understanding of the pathogenesis of <i>int22h1/int22h2</i>-mediated Xq28 duplication syndrome may grant us a better understanding of the sex-specific differences in immunological responses, as well as the potential role of the genes involved by the duplication, in oncogenesis.https://www.mdpi.com/2073-4425/12/6/860XLIDgene dosageRAB39BCLIC2BRCC3VBP1 |
| spellingShingle | Rami A. Ballout Ayman W. El-Hattab The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer Genes XLID gene dosage RAB39B CLIC2 BRCC3 VBP1 |
| title | The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer |
| title_full | The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer |
| title_fullStr | The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer |
| title_full_unstemmed | The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer |
| title_short | The <i>int22h1/int22h2</i>-Mediated Xq28 Duplication Syndrome: An Intersection between Neurodevelopment, Immunology, and Cancer |
| title_sort | i int22h1 int22h2 i mediated xq28 duplication syndrome an intersection between neurodevelopment immunology and cancer |
| topic | XLID gene dosage RAB39B CLIC2 BRCC3 VBP1 |
| url | https://www.mdpi.com/2073-4425/12/6/860 |
| work_keys_str_mv | AT ramiaballout theiint22h1int22h2imediatedxq28duplicationsyndromeanintersectionbetweenneurodevelopmentimmunologyandcancer AT aymanwelhattab theiint22h1int22h2imediatedxq28duplicationsyndromeanintersectionbetweenneurodevelopmentimmunologyandcancer AT ramiaballout iint22h1int22h2imediatedxq28duplicationsyndromeanintersectionbetweenneurodevelopmentimmunologyandcancer AT aymanwelhattab iint22h1int22h2imediatedxq28duplicationsyndromeanintersectionbetweenneurodevelopmentimmunologyandcancer |