Population record
· 7 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| population | Population | “Despite being a well-known condition, the genetic basis of PCG, particularly in highly consanguineous populations like the Pashtun community, still needs to be explored. Six consanguineous Pashtun families (PCG-01, PCG-02, PCG-03, PCG-04, PCG-05, & PCG-07) suffering from PCG were recruited for whole exome sequencing. R290Pfs36) and c.1169G > A (p.R390H), were also detected in PCG-01 and PCG-04 families, respectively. This study identifies novel pathogenic variants associated with PCG in consanguineous Pashtun families, highlighting the role of CYP1B1 mutations in PCG development.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Four out of 6 couples reported consanguinity. Carrier status of two rare lethal metabolic disorders was confirmed in one consanguineous couple. Six out of 10 were pathogenic variants, out of which 4 correlated with the demised children's phenotypes.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “It is reported to occur in 1 to 4 individuals per million people. There was no similar disorder in the patient's family but family history revealed the consanguineous marriage of the patient's parents.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral hypertonia, and variable dysmorphic facial features.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “DESIGN AND SETTINGS: A cross-sectional clinical genetic study of 16 L-2-hydroxyglutaric aciduria patients from 4 Arab consanguineous families examined at the metabolic clinic of the hospital.” | 0.80 | saudi_context_rules_v1 |
| population | Population | “One in 4 adults will suffer from a multifactorial or a somatic cell genetic disease. This review discusses how the Islamic teachings play an important role in the prevention and management of genetic disorders and the type of ethical implications involved in such management namely premarital medical examination, the question of consanguinity, the genetic counseling, the question of preimplantation diagnosis, the question of abortion and the offering of alternative ways of reproduction.” | 0.80 | saudi_context_rules_v1 |