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Hyper IgE Syndrome in an Isolated Population in Israel
Idit Lachover-Roth1,2, Irina Lagovsky2,3, Atalia Shtorch-Asor4
1Allergy and Clinical Immunology Unit, Meir Medical Center, Kfar-Saba, Israel.
Frontiers in Immunology
|February 21, 2022
Summary
A ZNF341 gene mutation, linked to Hyper IgE syndrome (HIES), was found in 5% of females in an Israeli village. This high carrier frequency suggests a founder effect and consanguineous marriages contribute to the prevalence of this HIES-associated mutation.
Area of Science:
- Genetics
- Immunology
- Population Health
Background:
- Hyper IgE syndromes (HIES) are rare primary immunodeficiencies characterized by elevated serum IgE, recurrent infections, and eczema.
- ZNF341 deficiency, identified in 2018, affects patients previously diagnosed with HIES.
- A significant number of ZNF341-deficient patients originate from a specific Muslim village in Israel, with a population of approximately 15,000, and belong to consanguineous families.
Purpose of the Study:
- To determine the prevalence of the ZNF341 mutation within the population of the specified Israeli village.
- To investigate the carrier frequency of the ZNF341 mutation in a targeted population group.
Main Methods:
- Sanger sequencing was employed to screen for the ZNF341 mutation (c.904C>T, NM_001282933.1).
- DNA samples from 300 Muslim females were analyzed, including 200 from the target village and 100 from surrounding areas, collected between 2017-2019 for prenatal genetic testing.
- A control group of 100 Muslim females from other villages was included for comparison.
Main Results:
- A heterozygous nonsense mutation in ZNF341 was detected in 10 out of 200 samples (5%) from the studied village.
- No instances of the ZNF341 mutation were found in the control group of 100 females from other villages (p<0.01).
- The carrier frequency for the ZNF341 mutation in the studied village population was determined to be 1:20.
Conclusions:
- The high carrier frequency of the ZNF341 mutation in this village population is likely attributed to a founder effect.
- Consanguineous marriages within the community are a probable contributing factor to the elevated prevalence of the ZNF341 mutation.
- The findings highlight the importance of genetic screening in isolated populations with a high incidence of specific genetic disorders.
