Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features.

Neurology
Michael J Rosanoff, Ruth Ottman

Abstract

Assessment of the penetrance of disease-causing mutations is extremely important for developing clinical applications of gene discovery, such as genetic testing and counseling. Mutations in the leucine-rich, glioma inactivated 1 gene (LGI1) have been identified in about 50% of families with autosomal dominant partial epilepsy with auditory features (ADPEAF), but estimates of LGI1 mutation penetrance have ranged widely, from 50 to 85%. The current study aimed to provide a more precise estimate of LGI1 mutation penetrance. We analyzed data from all 24 previously published ADPEAF families with mutations in LGI1. To estimate penetrance, we used the information from the published pedigree figures to determine the proportion of obligate carriers who were affected. We assessed whether penetrance was associated with the total number of affected individuals in each family, or mutation type (truncating or missense) or location within the gene. We also compared penetrance in males and females, and among different generations within the families. Overall penetrance was 67% (95% CI 55-77%), and did not vary according to mutation type or location within the gene. Penetrance was greater in families with more affected individuals, but this tre...Continue Reading

Citations

Feb 9, 2013·Der Nervenarzt·Y G Weber, H Lerche
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Aug 23, 2019·Cellular and Molecular Life Sciences : CMLS·Atsushi Yamagata, Shuya Fukai
Dec 31, 2021·Cellular and Molecular Life Sciences : CMLS·Paul BaudinVincent Navarro

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