Population record
Saudi Arabia · 7 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Saudi Arabia | “Pattern reversal visual evoked potentials (prVEPs) in autosomal recessive hereditary spastic paraplegia with thin corpus callosum (ARHSPTCC) patients with SPG 11 mutations in Saudi Arabia, cross section hospital base study. DESIGN/METHODS: Routine prVEPs were performed in 11 subjects with genetically confirmed (Athena Diagnostic USA) SPG11 ARHSPTCC. Nine were from consanguineous parents.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. METHODS: We identified 11 patients from five consanguineous but unrelated families affected by ARCI. RESULTS: Here we report two novel mutations c.397_398insAGTATGAGTA (p.Tyr136Ter); c.977-978delCT (p.Ser326Cysfs*8) in TGM1 in three different, unrelated Saudi families and one novel mutation c.6900C>A (p.Phe2300Leu) and one reported mutation c.3470C>T (p.Ser1157Leu) in the ABCA12 gene in two unrelated Saudi families with ARCI. Furthermore, these findings are essential for the genetic diagnostic and prognostic workup with ARCI in Saudi patients.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “METHODS: A retrospective case series of 11 individuals (age 2â 26 years; four consanguineous families) with early-onset retinal dysfunction found to harbour CABP4 mutations after a strategy of homozygosity analysis and/or candidate gene testing. In Saudi Arabia a founder homozygous c.81_82insA CABP4 mutation is a recurrent cause.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Thirteen consanguineous families containing a proband with LGMD2 were recruited from Saudi Arabia, and for 11 of these families, selected individuals were genotyped at 10,204 single nucleotide polymorphisms. LGMD2 subtypes A and B were notably absent from our sample of patients, indicating that the distribution of LGMD2 mutations in Saudi Arabian families may be different than in other populations. Our data demonstrate that homozygosity mapping in consanguineous pedigrees offers a more efficient means of discovering mutations that cause heterogeneous disorders than comprehensive sequencing of known candidate genes.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “RESULTS: In 9 of 11 unrelated affected Israeli Bedouin families, PCG was associated with homozygosity of 3 different CYP1B1 mutations. As in Saudi Arabian families, the 3987G>A CYP1B1 substitution accounted for approximately 50% of cases. In 2 consanguineous families, there was no evidence of homozygosity or mutations in CYP1B1. The most frequently found CYP1B1 mutation (3987G>A) in our study is also the commonest CYP1B1 mutation in the Saudi Arabian population, in line with the common genetic background of both populations. The absence of homozygosity in the CYP1B1 locus in the affected individuals in 2 consanguineous inbred families, suggests that other genes take part in the causation of congenital glaucomas.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Clinical spectrum of Bardet-Biedl syndrome among four Saudi Arabian families. We have studied the clinical spectrum of 11 Saudi Arabian patients from four consanguineous families.” | 0.95 | saudi_context_rules_v1 |
| population | Saudi Arabia | “Kindler syndrome in a Saudi kindred. We report a large consanguineous Saudi-Arabian pedigree containing 11 individuals with the autosomal recessive genodermatosis, Kindler syndrome.” | 0.95 | saudi_context_rules_v1 |