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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 %
  1. aGenes affected by CNVRs in each subpopulation were looked up in the database for Online Mendelian Inheritance in Man (OMIM) for confirmed role in disease. Disease name, MIM number (OMIM identifier) and gene appear in the first two columns, followed by CNVR-centric information and sub-population-centric data. Start-End: coordinates of CNV containing OMIM gene; Deleted/Duplicated exons: exons from each gene within the boundaries of the deletion or duplication
  2. 2Q1, Q2 and Q3: Percentage of individuals in each subpopulation carrying this CNVR. “-” indicates CNVR not present in this subpopulation