Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Bukharan Jewish Population
Stephanie E Wallace, MD
Senior Editor, GeneReviews
Clinical Professor, Department of Pediatrics
University of Washington
Seattle, Washington
Initial Posting: September 29, 2022.
Estimated reading time: 2 minutes
A founder variant is a pathogenic variant observed at high frequency in a specific population due to the presence of the variant in a single ancestor or small number of ancestors. The presence of a founder variant can affect the approach to molecular genetic testing. When one or more founder variants account for a large percentage of all pathogenic variants found in a population, testing for the founder variant(s) may be performed first.
The table below includes common founder variants – here defined as three or fewer variants that account for >50% of the pathogenic variants identified in a single gene in individuals of a specific ancestry – in individuals of Bukharan Jewish ancestry. Note: Pathogenic variants that are common worldwide due to a DNA sequence hot spot are not considered founder variants and thus are not included.
Table.
Genetic Disorders Associated with Founder Variants Common in the Bukharan Jewish Population
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Included if ≤3 pathogenic variants account for ≥50% of variants identified in a specific ethnic group
AR = autosomal recessive; MOI = mode of inheritance
- 1.
Variant designation that does not conform to current naming conventions
- 2.
Percentage does not account for the possibility of rare de novo pathogenic variants occurring in this population.
- 3.
To date, no additional pathogenic variants in this gene have been reported in individuals of this ethnicity (and/or from the specified region when indicated).
- 4.
Individuals of Bukharan Jewish ancestry originating from Kazakhstan and Tajikistan
- 5.
This substitution affects the nucleotide two base pairs upstream of the donor splice site of intron 3 and is known to cause abnormal splicing.
- 6.
At least one additional pathogenic variant reported in this population in ≥1 family
References
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Zlotogora J. Mendelian Disorders Among Jews [Internet]. Israel:
Department of Community Genetics Public Health Services Ministry of Health - Israel; 2015 [cited 2022 June 20]. Available from:
www.health.gov.il (pdf)