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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
  1. aQatari CNVRs were compared to CNVRs from the 1000 Genomes Phase I study (n = 1092) [25] that were generated using next-generation sequencing technologies. Only 14 CNVRs were novel, including 9 deletions and 5 duplications. OMIM disorder – name of disorder as it appears in the OMIM database. MIM number – OMIM identifier. Del/Dup – Whether CNVR is a deletion or duplication (full or internal). Other affected genes – Other genes (not in OMIM) within the same CNV. ChrCytoband:start-end – Genomic location of the CNVR in Qataris. Size – Size of CNVR. Q1, Q2, Q3 – Qatari subpopulation (n denotes number of individuals in each subpopulation)