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Genetic variants in children with chronic respiratory diseases
Mohammed T Alsamri1, Amnah Alabdouli1, Alia M Alkalbani1
1Department of Pediatrics, Tawam Hospital, Al Ain, United Arab Emirates.
Insights
Genetic testing is crucial for diagnosing severe respiratory diseases in children in the Arabian Peninsula. Identifying genetic variants aids in family counseling and preventing autosomal recessive (AR) disorders.
Area of Science:
- Medical Genetics
- Pediatric Pulmonology
- Genomic Medicine
Background:
- Consanguineous marriages in the Arabian Peninsula increase the prevalence of founder mutations and autosomal recessive (AR) disorders.
- Persistent, unexplained respiratory problems in children often necessitate genetic evaluation.
Purpose of the Study:
- To highlight the diagnostic utility of genetic testing for severe respiratory diseases in children.
- To analyze genetic variants and their implications for family counseling and disease prevention.
Main Methods:
- Retrospective analysis of genetic testing results for ten children with severe respiratory diseases.
- Detection and characterization of genetic variants, including novel ones.
- Calculation of fetal-risk for AR disorders based on shared variants using binomial probability distribution.
Main Results:
- Forty-one genetic variants were identified across ten patients, averaging four per child (range: 1-9).
- Six novel variants were discovered among the 41 identified.
- Calculated fetal-risk for AR disorders ranged from 0.25 to 0.9249, depending on the number of shared variants.
Conclusions:
- Genetic testing is invaluable for diagnosing complex respiratory conditions in children with a genetic predisposition.
- Identifying pathogenic variants facilitates improved clinical management, genetic counseling, and targeted screening strategies.
- Understanding genetic contributions is essential for disease prevention in populations with high rates of consanguinity.
Abstract:
Founder mutations and autosomal recessive (AR) disorders are common in the Arabian Peninsula due to frequent consanguineous marriages. As a result, the pulmonary service at Tawam Hospital (Al Ain, UAE) routinely requests genetic testing for children with persistent (unexplained) respiratory problems. The main purpose of this report was to underscore the usefulness of these tests. Ten children with severe respiratory diseases due to complex genetic findings are described here. Forty-one variants (six novel) were detected, averaging four per patient (range: 1-9). Seven (17%) variants were homozygous and 34 (83%) heterozygous; some variants were known to show monoallelic expression. Using binomial probability distribution, the fetal-risk for having AR disorder(s) as a function of the number of shared variants by a couple ranged from 0.25 (having one shared variant) to 0.9249 (having nine shared variants). In cultures where increased size of homozygous genomic segments is common, children often have multiple variants that could cause complex clinical phenotypes. Identifying pathogenic variants assists in clinical care, family counseling, and disease prevention through genetic screening.
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