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Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil. | LitMetric

AI Article Synopsis

  • A recent study analyzed 38 patients with cerebrotendineous xanthomatosis (CTX) across six genetics centers in Brazil, marking the largest CTX case series in South America.
  • The study identified 13 variants in the CYP27A1 gene, including three not previously reported, and highlighted cataracts as the most common initial symptom of CTX in the Brazilian cohort.
  • The research also found a correlation between the age of onset of neurological symptoms and the age when patients lose the ability to walk, with a median gap of about 10 years.

Article Abstract

There are few cerebrotendineous xanthomatosis (CTX) case series and observational studies including a significant number of Latin American patients. We describe a multicenter Brazilian cohort of patients with CTX highlighting their clinical phenotype, recurrent variants and assessing possible genotype-phenotype correlations. We analyzed data from all patients with clinical and molecular or biochemical diagnosis of CTX regularly followed at six genetics reference centers in Brazil between March 2020 and August 2023. We evaluated 38 CTX patients from 26 families, originating from 4 different geographical regions in Brazil. Genetic analysis identified 13 variants in the CYP27A1 gene within our population, including 3 variants that had not been previously described. The most frequent initial symptom of CTX in Brazil was cataract (27%), followed by xanthomas (24%), chronic diarrhea (13.5%), and developmental delay (13.5%). We observed that the median age at loss of ambulation correlates with the age of onset of neurological symptoms, with an average interval of 10 years (interquartile range 6.9 to 11 years). This study represents the largest CTX case series ever reported in South America. We describe phenotypic characteristics and report three new pathogenic or likely pathogenic variants.

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Source
http://dx.doi.org/10.1111/cge.14602DOI Listing

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