A community-based study of mucopolysaccharidosis type VI in Brazil: The influence of founder effect, endogamy and consanguinity

Abstract

Mucopolysaccharidosis type VI (MPS VI - Maroteaux-Lamy syndrome) is a globally rare lysosomal storage disease caused by a deficiency of arylsulfatase B. However, in Monte Santo, a poor and isolated rural region in Northeast Brazil with large family sizes and high rates of community endogamy and parental consanguinity (α = 0.00483), 9 living and 4 now deceased individuals in 11 kindreds have been diagnosed with MPS VI, all with the same p.H178L missense founder mutation. A further 33 deceased persons have been identified by family members as exhibiting the disease phenotype. Detailed pedigrees were constructed for the 13 genomically confirmed MPS VI patients, with blood samples collected from 236 unaffected family members to determine the prevalence of the p.H178L mutation. A total of 98 (20.8%) mutant alleles and 374 (79.2%) normal alleles were identified, with 41.5% of the individuals heterozygous for the p.H178L mutation and 58.5% homozygous for the normal allele. A significant number of other family members with a 50 or 25% chance of being heterozygous for the p.H178L mutation were unavailable for testing. The data indicate a compelling case for community-based neonatal screening in conjunction with further initiatives among MPS VI family members to promote genetic education and genetic counselling.

RAS ID

18175

Document Type

Journal Article

Date of Publication

1-1-2014

Faculty

Faculty of Health, Engineering and Science

School

School of Medical Sciences

Copyright

free_to_read

Publisher

S. Karger AG

Comments

Costa-Motta F.M., Bender F., Acosta A., Abe-Sandes K., Machado T., Bomfim T., Sorte T.B., Da Silva D., Bittles A., Giugliani R., Leistner-Segal S. (2014). A community-based study of mucopolysaccharidosis type VI in Brazil: The influence of founder effect, endogamy and consanguinity. Human Heredity, 77(1-4), 189-196. Available here

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Link to publisher version (DOI)

10.1159/000358404