Genetic studies in a cluster of Mucopolysaccharidosis Type VI patients in Northeast Brazil

A Community-Based Study of Mucopolysaccharidosis Type VI in Brazil: The Influence of Founder Effect, Endogamy and Consanguinity

“…To date, 13 cases of MPS VI, 9 living and 4 now deceased, have been confirmed by clinical examination and genomic analysis, and each of these patients was shown to be homozygous for the ARSB p.H178L missense mutation. The results are strongly suggestive of 192 a founder effect that has resulted in a high frequency of the p.H178L mutation in this mainly rural area [20] , an opinion strongly supported by the detailed genealogical data collected as part of the present investigation ( fig. 2 ).…”

Level of independence, functional capacity and respiratory muscle strength of patients with mucopolysaccharidosis type VI in the Northeast of Brazil

“…While 1,100 individuals are estimated to have MPS VI, only 10% have been evaluated by a biochemical and genetic perspective. 2 In Brazil and Portugal, the incidence of MPS VI is twice as much than those found in Australia and in the Netherlands. 3,4 The MPS VI is one of the most commonly diagnosed types in Brazil, 1,5,6 with an estimated incidence of 0.083 per 100,000 inhabitants.…”

“…Furthermore, it is more common in the Northeast of the country. 2 The first signs of the disease appear at childhood, 6 including growth retardation, flexion contractures in the whole body, progressive joint stiffness, cardiovascular alterations and obstructive sleep apnea syndrome. 1,7 These abnormalities may result in a significant loss of the functions.…”

Delivering Genetic Education and Genetic Counseling for Rare Diseases in Rural Brazil

“…To investigate the feasibility of establishing genetic services in this generally under- It soon became obvious that the prevalence of MPS VI in Monte Santo was indeed high with 13 living cases identified in 11 nuclear families, and genetic analysis showed that all affected persons were homozygous for the p.H178L mutation in the arylsulfatase B (ARSB) gene (Costa-Motta et al, 2011). The data therefore strongly suggested the expression of a founder mutation, maintained and spread through intra-community and intra-familial marriage and resulting in a present-day MPS VI prevalence of 1/5,000.…”