AI Article Synopsis
- - The study focuses on the Druze population, which has a history of genetic isolation, leading to recurrent pathogenic variants in autosomal recessive disorders.
- - Researchers conducted whole-genome and whole-exome sequencing on 158 Druze individuals to identify pathogenic variants and compared their findings to global databases.
- - They found 34 pathogenic variants linked to different genetic disorders and recommend including these findings in future prenatal screening options for the Druze, pending further validation.
Article Abstract
Background: Druze individuals, like many genetically homogeneous and isolated populations, harbor recurring pathogenic variants (PV) in autosomal recessive (AR) disorders.
Methods: Variant calling of whole-genome sequencing (WGS) of 40 Druze from the Human Genome Diversity Project (HGDP) was performed (HGDP-cohort). Additionally, we performed whole exome sequencing (WES) of 118 Druze individuals: 38 trios and 2 couples, representing geographically distinct clans (WES-cohort). Rates of validated PV were compared with rates in worldwide and Middle Eastern populations, from the gnomAD and dbSNP datasets.
Results: Overall, 34 PVs were identified: 30 PVs in genes underlying AR disorders, 3 additional PVs were associated with autosomal dominant (AD) disorders, and 1 PV with X-linked-dominant inherited disorder in the WES cohort.
Conclusions: The newly identified PVs associated with AR conditions should be considered for incorporation into prenatal-screening options offered to Druze individuals after an extension and validation of the results in a larger study.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137689 | PMC |
| http://dx.doi.org/10.3390/genes14040937 | DOI Listing |
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