Table 5 Novel Qatari-specific CNVRs Affecting OMIM Disease Genesa
From: Copy number variations in the genome of the Qatari population
OMIM disorder | MIM number | OMIM gene | OMIM gene name | Exons affected | Other affected genes | Type | ChrCytoband: start-end | Size (bp) | Q1 (n = 57) | Q2 (n = 20) | Q3 (n = 20) |
|---|---|---|---|---|---|---|---|---|---|---|---|
Age-related macular degeneration | 603075 | HMCN1 | Hemonectin | 31/107 | - | Deletion | 1q31.1:185979151-185985000 | 5849 | 0 | 1 | 0 |
Chediak-Higashi syndrome | 214500 | LYST | Lysosomal trafficking regulator | 47/53 | - | Deletion | 1q42.3:235854998-235858929 | 3931 | 1 | 1 | 0 |
Glutaric acidemia IIC | 231680 | ETFDH | Electron transfer flavoprotein dehydrogenase | 1/13 | C4orf46 | Deletion | 4q32.1:159591175-159594157 | 2982 | 1 | 1 | 0 |
Hereditary nonpolyposis colorectal cancer, type 4 | 614337 | PMS2 | Post-meiotic segregation increased, S. cerevisiae 2 | 13-14/15 | - | Deletion | 7p22.1:6016951-6019650 | 2699 | 2 | 1 | 0 |
Microcephaly 1, autosomal recessive | 251200 | MCPH1 | Microcephaly 1 | 14/14 | - | Deletion | 8p23.1:6493670-6501582 | 7912 | 1 | 0 | 0 |
Deafness, autosomal dominant | 608641 | GRHL2 | Grainy-head like 2 | 8/16 | - | Deletion | 8q22.3:102604016-102619491 | 15475 | 0 | 1 | 0 |
Alpha-methylacetoacetic aciduria | 203750 | ACAT1 | Acetyl-CoA acetyltransferase 1 | 2-3/12 | - | Deletion | 11q22.3:108002099-108004927 | 2828 | 1 | 0 | 1 |
Gitelman syndrome | 263800 | SLC12A3 | Solute carrier family 12, member 3 | 1-7/26 | NUP9, miR-138-2 | Deletion | 16q13:56857680-56905458 | 47778 | 1 | 2 | 0 |
Essential hypertension | 145500 | PTGIS | Prostaglandin I2 synthase | 9-10/10 | - | Deletion | 20q13.13:48124290-48128451 | 4161 | 1 | 0 | 0 |
Saethre-Chotzen syndrome; craniosynostosis, type 1; Robinow-Sorauf syndrome | 101400; 123100; 180750 | TWIST1 | Twist basic helix-loop-helix transcription factor 1 | 1-2/2 | miR-137, miR-25/32/92/92ab/363/367, miR-33/33ab, miR-543 | Full duplication | 7p21.1:19149966-19157073 | 7107 | 1 | 0 | 0 |
Tyrosinemia, type II | 276600 | TAT | Tyrosine aminotransferase | 1-12/12 | CHST4, miR-485, miR-202, miR-125/351 | Full duplication | 16q22.2:71541001-71622751 | 81750 | 0 | 0 | 1 |
Holoprosencephaly-9 | 610829 | GLI2 | Gli-kruppel family member 2 | 10-13/13 | - | Internal duplication | 2q14.2:121739875-121747372 | 7497 | 2 | 0 | 1 |
Hereditary nonpolyposis colorectal cancer, type 4 | 614337 | PMS2 | Post-meiotic segregation increased, S. cerevisiae 2 | 13-14/15 | - | Internal duplication | 7p22.1:6016501-6019650 | 3149 | 5 | 1 | 1 |
Congenital myasthenic syndrome | 608931 | MUSK | Muscle, skeletal receptor tyrosine kinase | 2-3/14 | - | Internal duplication | 9q31.3:113439201-113451401 | 12200 | 1 | 1 | 0 |