In a Chinese population, 4q to 10q translocation contributes to de novo mutations in FSHD, leading to a more severe phenotype.
Translocation-linked de novo mutations may worsen FSHD severity in Chinese patients; leaves open generalizability and requires prospective validation.
Current studies of facioscapulohumeral muscular dystrophy (FSHD) are confined to the white population. The authors surveyed 110 healthy individuals and 27 families with FSHD including 55 patients and 74 relatives by pulsed-field gel electrophoresis. The authors report the characteristics of translocation and genotype-phenotype correlation, and their results indicate 4q to 10q translocation contributes to the occurrence of de novo mutation. This leads to a more severe phenotype in the Chinese population comparing to EcoRI allele sizes and the intersexual difference.
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Wu et al. (2004) studied this question.
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