Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
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Date
2025-11-04
Journal Title
Journal ISSN
Volume Title
Publisher
Springer Nature
Abstract
Background Limited or absent genetic counseling and testing resources in low- and medium-income countries
lead to missed or late diagnoses for treatable metabolic conditions with irreversible complications. In some com
munities, misunderstanding about the etiology of a genetic condition may lead women whose children are affected
to be viewed as a bad omen and become stigmatized or ostracized from their community. Mucopolysaccharidosis
type II (MPS II), or Hunter syndrome, is a lysosomal storage disorder in which deficiency or inactivity of the enzyme
iduronate-2-sulfatase leads to accumulation of glycosaminoglycans throughout the body. The diagnosis can be made
through clinical assessment, enzyme activity analysis, or DNA sequencing. Treatment requires a multidisciplinary
approach combining supportive care with disease-modifying therapies, including enzyme replacement therapy
where available.
Results To understand the incidence and impact of MPS II in Kenya, we sought to provide counseling and genetic
testing to individuals and families with suspected MPS II. After pretest counseling, we collected blood from 25 indi
viduals to determine iduronate-2-sulfatase levels and sequence the IDS gene. We identified a pathogenic or likely
pathogenic variant in 17 of 25 individuals and subsequently identified 18 female carriers in these families. We catalog
the genotype of males with MPS II and correlate this with the phenotypic profile of these individuals, the female car
rier rate, and mortality within the families.
Conclusions This study provides the first summary of genotype–phenotype correlations for MPS II in individu
als from Kenya. These findings will allow the development of guidelines to identify individuals who may benefit
from early evaluation, especially in those families where there is a risk of MPS II.
Description
Keywords
Mucopolysaccharidosis type II (MPS II), Lysosomal storage disorder, Genetic counseling, Genetic testing, Kenya, Low- and middle-income countries (LMICs
Citation
Miller, D., Mungai, L. W., Njeru, C., Njoroge, A., Maina, M., Ilovi, S., ... & Odongkara, B. (2025). Challenges and Opportunities with Providing Genetic Testing and Counseling for Mucopolysaccharidosis Type II in Kenya.