Loss of CAA interruption and intergenerational CAG instability in Chinese patients with Huntington ’s disease

In conclusion, we present the first document of Asian HD population with LOI variant, and we suggest that for symptomatic individuals with intermediate or reduced  penetrance allele or negative family history,HTT gene sequencing should be considered in the clinical practice.Key messagesWe screened the loss of CAA interruption (LOI) variant in a Chinese HD cohort and presented the first document of Asian patients with Huntington ’s disease carrying LOI variant. We identified 6 individuals with LOI variants from 3 families, and all probands presented with earlier motor onset age than predicted onset age.We presented 2 families with extreme CAG instability during germline transmission. One family showed an expansion from 35 to 66 CAG repeats, while the other family showed both CAG expansion and contraction in lineal three generations.We suggest that for symptomatic individuals with intermediate or reduced penetrance allele or negative family history,HTT gene sequencing should be considered in the clinical practice.
Source: Journal of Molecular Medicine - Category: Molecular Biology Source Type: research