Challenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya

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dc.contributor.authorWainaina Mungai, Lucy N.
dc.contributor.authorNjeru, Charles
dc.contributor.authorNjoroge, Allan
dc.contributor.authorMaina, Michuki
dc.contributor.authorIlovi , Syokau
dc.contributor.authorNduati, Ruth W.
dc.contributor.authorWamalwa, Dalton
dc.contributor.authorOdongkara, Beatrice
dc.contributor.authorMiller, Danny E.
dc.date.accessioned2026-06-15T10:36:40Z
dc.date.available2026-06-15T10:36:40Z
dc.date.issued2025-11-04
dc.description.abstractBackground 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.
dc.identifier.citationMiller, 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.
dc.identifier.otherhttps://doi.org/10.1186/s13023-025-03881-3
dc.identifier.urihttp://hdl.handle.net/20.500.14270/836
dc.language.isoen
dc.publisherSpringer Nature
dc.subjectMucopolysaccharidosis type II (MPS II)
dc.subjectLysosomal storage disorder
dc.subjectGenetic counseling
dc.subjectGenetic testing
dc.subjectKenya
dc.subjectLow- and middle-income countries (LMICs
dc.titleChallenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya
dc.typeArticle

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