Table 2.
Examples of conditions observed more commonly in patients seen by Hamad Medical Corporation clinicians
| Condition | Comments | Reference(s), where available |
|---|---|---|
| Arterial tortuosity syndrome | Described in multiple members in several families due to the NM_030777.3(SLC2A10):c.243C>G (p.Ser81Arg) variant (OMIM 606145) | Abdul Wahab et al. (2003) and Faiyaz‐Ul‐Haque et al. (2008) |
| Cystic fibrosis | The variant NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val) (OMIM 219700) is a high‐frequency founder variant in the tribal Qatari population and results in a mild‐to‐moderate phenotype | Abdul Wahab, Al Thani, Dawod, Kambouris, and Al Hamed (2001) |
| Dihydrolipoamide dehydrogenase (DLD) deficiency | Multiple Qatari families have been identified as affected with the NM_000108.4(DLD):c.685G>T (p.Gly229Cys) variant (OMIM 238331) | |
| Epidermolysis bullosa, junctional type | Multiple members of a Bedouin family have been described with the NM_000227.4(LAMA3):c.3609 + 1G>A variant (OMIM 600805) | Teebi (2010) |
| Hemoglobinopathies | Multiple pathogenic variants are observed at higher frequencies in the population of Qatar, including variants related to different hemoglobinopathies (e.g., ß‐thalassemia, sickle cell anemia) | Al‐Obaidli et al. (2007) |
| Homocystinuria due to cystathionine beta‐synthase deficiency | The highest global incidence in the world is reported in Qatar (1:1800); 2% of the population is estimated to carry the NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) variant (OMIM 613381) | Al‐Dewik, Ali et al. (2017), Al‐Dewik, Mohd et al. (2017), El‐Said et al. (2006), Gan‐Schreier et al. (2010) and Zschocke et al. (2009) |
| Mitochondrial calcium uniporter | Described in multiple members in several families due to the NM_006077.3(MICU1):c.553C>T (p.Gln185Ter) variant (OMIM 605084) | (Musa et al., 2018) |
| Nonsyndromic microphthalmia/anophthalmia | Described in multiple members in several families due to the NM_182894.2(VSX2):c.599G>C (p.Arg200Pro) variant (OMIM 142993) | Faiyaz‐Ul‐Haque et al. (2007) and Teebi (2010) |
| Spinal muscular atrophy (SMA) | There are currently 23 Qatari patients living with SMA, of which 17 patients have SMA type 1; 2 patients have SMA type 2; and 4 patients have SMA type 3. Out of these 23 patients, 8 patients were diagnosed in 2017 and 2018 (OMIM 600354) | |
| Woodhouse–Sakati syndrome | Multiple members of highly consanguineous families from Qatar have been described with the NM_025000.3(DCAF17):c.436delC (p.Ala147Hisfs) variant (OMIM 612515) | Ben‐Omran et al. (2011) |
| Van Den Ende–Gupta syndrome (VDEGS) | Multiple members of an extended Bedouin tribe have been described with the NM_153334.6(SCARF2):c.773G>A (p.Cys258Tyr) variant (OMIM 613619) | Anastasio et al. (2010) |