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Genotyping an immunodeficiency causing c.1624-11G>A ZAP70 mutation in Canadian Mennonites.

M L Schroeder¹, B Triggs-Raine^1,2, T Zelinski^3,4

¹Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

BMC Medical Genetics

|July 25, 2016

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A genetic mutation in ZAP70 causes primary immunodeficiency in Manitoba Mennonites. A screening test now allows early detection for timely intervention and genetic counseling for carriers.

Area of Science:

Genetics
Immunology
Medical Research

Background:

Primary immunodeficiency is a severe genetic disorder.
An increased incidence was observed in the Manitoba Mennonite population.
Identifying the genetic cause is crucial for early medical intervention.

Purpose of the Study:

To determine the genetic basis of primary immunodeficiency in Manitoba Mennonites.
To identify the specific causative mutation and its frequency within the community.

Main Methods:

DNA linkage analysis to known immunodeficiency genes.
Sequencing of candidate genes to pinpoint the mutation.
Polymerase chain reaction (PCR)-based assay to determine mutation frequency.

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Main Results:

A c.1624-11G>A mutation in the ZAP70 gene was identified as the cause.
Among 125 Mennonite participants, 7 were affected, 39 were carriers, and 79 were normal.
No mutation carriers were found in non-Mennonite individuals, but one carrier was identified in a small Mennonite sample.

Conclusions:

A reliable screening test for ZAP70 genotype was developed in partnership with the community.
Early identification enables prompt clinical intervention for affected individuals.
Carrier identification facilitates genetic counseling for at-risk couples.