Table 4 Qatari Genetic Subpopulation-specific Distribution of Known CNV Regions Deletions Affecting Known Mendelian Disease Genesa
From: Copy number variations in the genome of the Qatari population
Disease (MIM number) | Gene | Exons affected | CHR | Start | End | Size | Q12 | Q22 | Q32 |
|---|---|---|---|---|---|---|---|---|---|
Deletion | |||||||||
Age related macular degeneration (603075) | HMCN1 | 31/107 | 1q31.1 | 185979151 | 185985000 | 5849 | - | <1 % | - |
Chediak-Higashi syndrome (214500) | LYST | 47/53 | 1q42.3 | 235854998 | 235858929 | 3931 | <1 % | <1 % | - |
Dystonia 16 (612067) | PRKRA | 6-7/7 | 2q31.2 | 179296981 | 179300871 | 3890 | >10 % | 1-10 % | 1-10 % |
Glutaric acidemia IIC (231680) | ETFDH | 1/13 | 4q32.1 | 159591175 | 159594157 | 2982 | <1 % | 1-10 % | - |
Distal myopathy (606070) | MATR3 | 16-17/18 | 5q31.2 | 138661971 | 138665031 | 3060 | 1-10 % | 1-10 % | <1 % |
Prostate cancer (176807) | MSR1 | 5-10/10 | 8p22 | 15945301 | 16023600 | 78299 | - | <1 % | - |
Alpha-methylacetoacetic aciduria (203750) | ACAT1 | 2-3/12 | 11q22.3 | 108002099 | 108004927 | 2828 | <1 % | - | <1 % |
Keutel syndrome (245150) | MGP | 1-5/5 | 12p12.3 | 15035821 | 15051689 | 15868 | 1-10 % | - | - |
von Willebrand disease (193400) | VWF | 4-5/52 | 12p13.31 | 6218203 | 6225614 | 7411 | 1-10 % | 1-10 % | - |
Adams-Oliver syndrome (614219) | DOCK6 | 15-28/48 | 19p13.2 | 11332570 | 11350981 | 18411 | 1-10 % | 1-10 % | <1 % |
Nephrotic syndrom (256300) | NPHS1 | 21-22/29 | 19q13.12 | 36328501 | 36331200 | 2699 | - | <1 % | - |
Bleeding disorder, platelet-type (614201) | GP6 | 7-8/8 | 19q13.42 | 55523566 | 55526400 | 2834 | - | - | <1 % |
Essential hypertension (14550) | PTGIS | 9-10/10 | 20q13.13 | 48124290 | 48128451 | 4161 | <1 % | - | - |
Duplication | |||||||||
Corneal dystrophy (136800) | COL8A2 | 2/2 | 1p34.3 | 36559621 | 36565584 | 5963 | - | - | <1 % |
Cerebellar ataxia (614756) | CAMTA1 | 11/23 | 1p36.23 | 7735380 | 7742501 | 7121 | 1-10 % | >10 % | - |
Peroxisome biogenesis disorder (614870) | PEX10 | 1-6/6 | 1p36.33,p36.32 | 2283844 | 2539006 | 255162 | >10 % | - | - |
Holoprosencephaly-9 (610829) | GLI2 | 10-13/13 | 2q14.2 | 121739875 | 121747372 | 7497 | 1-10 % | - | <1 % |
N-acetylaspartate deficiency (614063) | NAT8L | 1-3/3 | 4p16.3 | 2035597 | 2071655 | 36058 | >10 % | >10 % | 1-10 % |
Primary ciliary dyskinesia 3 (608644) | DNAH5 | 48-50/79 | 5p15.2 | 13791701 | 13795151 | 3450 | 1-10 % | - | - |
Bone marrow failure (614742) | TERT | 4-15/15 | 5p15.33 | 1230427 | 1255520 | 25093 | 1-10 % | - | - |
Recessive spastic paraplegia (613647) | AP5Z1 | 1-17/17 | 7p22.1 | 4805669 | 4877956 | 72287 | >10 % | >10 % | >10 % |
Progressive myoclonic epilepsy (611726) | KCTD7 | 1-5/5 | 7q11.21 | 66071436 | 66132291 | 60855 | - | - | <1 % |
5-oxoprolinase deficiency (260005) | OPLAH | 1-28/28 | 8q24.3 | 144773296 | 145216604 | 443308 | >10 % | >10 % | 1-10 % |
Amelogenesis imperfecta, type 3 (130900) | FAM83H | 1-5/5 | 8q24.3 | 144773296 | 145216604 | 443308 | >10 % | >10 % | 1-10 % |
Muscular dystrophy with epidermolysis bullosa (226670) | PLEC | 1-32/32 | 8q24.3 | 144773296 | 145216604 | 443308 | >10 % | >10 % | 1-10 % |
Acrodermatitis enteropathica (201100) | SLC39A4 | 1-12/12 | 8q24.3 | 145278809 | 145771012 | 492203 | >10 % | - | - |
Rothmund-Thomson syndrome (268400) | RECQL4 | 1-22/22 | 8q24.3 | 145278809 | 145771012 | 492203 | >10 % | - | - |
Myasthenic syndrome (608931) | MUSK | 2-3/13 | 9q31.3 | 113439201 | 113451401 | 12200 | <1 % | <1 % | - |
Autosomal dominant mental retardation (614254) | GRIN1 | 1-21/21 | 9q34.3 | 139887971 | 140232124 | 344153 | >10 % | >10 % | >10 % |
Hypophosphatemic rickets with hypercalciuria (241530) | SLC34A3 | 1-13/13 | 9q34.3 | 139887971 | 140232124 | 344153 | >10 % | >10 % | >10 % |
Recessive deafness (613307) | TPRN | 1-4/4 | 9q34.3 | 139887971 | 140232124 | 344153 | >10 % | >10 % | >10 % |
Recessive mental retardation (614202) | MAN1B1 | 1-14/14 | 9q34.3 | 139887971 | 140232124 | 344153 | >10 % | >10 % | >10 % |
Osteogenesis imperfecta, type V (610967) | IFITM5 | 1-2/2 | 11p15.5 | 280817 | 312896 | 32079 | - | - | 1-10 % |
Famililial hyperproinsulinemia (MODY) (613370) | INS | 1-2/2 | 11p15.5 | 2179313 | 2194175 | 14862 | 1-10 % | 1-10 % | 1-10 % |
Segawa syndrome (605407) | TH | 1-14/14 | 11p15.5 | 2179313 | 2194175 | 14862 | 1-10 % | 1-10 % | 1-10 % |
Primary congenital glaucoma (613086) | LTBP3 | 1-10/10 | 11q13.1 | 65305964 | 65407963 | 101999 | >10 % | - | - |
Pyruvate carboxylase deficiency (266150) | PC | 13-18/22 | 11q13.2 | 66617727 | 66629986 | 12259 | 1-10 % | - | - |
Mitochondrial myopathy and sideroblastic anemia (600462) | PUS1 | 1-4/6 | 12q24.33 | 132369172 | 132424944 | 55772 | >10 % | - | - |
GABA-transaminase deficiency (613163) | ABAT | 1-16/16 | 16p13.2 | 8723887 | 8875529 | 151642 | - | - | <1 % |
Progressive myopathy with developmental delay (613076) | GFER | 1-3/3 | 16p13.3 | 2003399 | 2285357 | 281958 | >10 % | 1-10 % | - |
Polycystic kidney disease, adult type I (173900) | PKD1 | 1-46/46 | 16p13.3 | 2003399 | 2285357 | 281958 | >10 % | 1-10 % | - |
Tuberous sclerosis 2 (606690) | TSC2 | 1-23/23 | 16p13.3 | 2003399 | 2285357 | 281958 | >10 % | 1-10 % | - |
Tyrosinemia, type II (276600) | TAT | 1-12/12 | 16q22.2 | 71541001 | 71622751 | 81750 | - | - | <1 % |
Cataract (610202) | MAF | 1-2/2 | 16q23.2 | 79620742 | 79638078 | 17336 | 1-10 % | 1-10 % | 1-10 % |
Huntington disease-like 2 (606438) | JPH3 | 2/5 | 16q24.2 | 87720933 | 87724383 | 3450 | 1-10 % | <1 % | <1 % |
Knobloch syndrome (267750) | COL18A1 | 1-41/41 | 21q22.3 | 46853110 | 46974756 | 121646 | - | 1-10 % | 1-10 % |
Bethlem myopathy (158810) | COL6A1 | 3-35/35 | 21q22.3 | 47390167 | 47435702 | 45535 | >10 | 1-10 | 1-10 % |
Recessive familial candidiasis (613953) | IL17RA | 1/1 | 22q11.1 | 17595746 | 17616510 | 20764 | 1-10 % | - | 1-10 % |