Journal article
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations
LM Dibbens, R Kneen, MA Bayly, SE Heron, T Arsov, JA Damiano, T Desai, J Gibbs, F McKenzie, JC Mulley, A Ronan, IE Scheffer
Neurology | Published : 2011
Abstract
Objective: Two unrelated families were ascertained in which sisters had infantile onset of epilepsy and developmental delay. Mutations in the protocadherin 19 (PCDH19) gene cause epilepsy and mental retardation limited to females (EFMR). Despite both sister pairs having a PCDH19 mutation, neither parent in each family was a heterozygous carrier of the mutation. The possibility of parental mosaicism of PCDH19 mutations was investigated. Methods: Genomic DNA from peripheral blood was obtained and sequenced for PCDH19 mutations. Parentage was confirmed by markers. Results: Both sister pairs have a mutation in PCDH19. Sister pair 1 has a missense mutation, c.74T>C, L25P, while sequence analysis ..
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Funding Acknowledgements
Supported by the National Health and Medical Research Council of Australia, MS McLeod Trustees, and Thyne Reid Charitable Trusts. Dr. Dibbens may accrue future revenue on a pending patent re: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females. Dr. Kneen, M. A. Bayly, Dr. Heron, Dr. Arsov, J.A. Damiano, T. Desai, Dr. Gibbs, and Dr. McKenzie report no disclosures. Dr. Mulley may accrue future revenue on a pending patent re: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females; has served as a consultant for Athena Diagnostics, Inc.; and receives research support from the National Health and Medical Research Council of Australia. A. Ronan reports no disclosures. Dr. Scheffer has served on scientific advisory boards for UCB and Janssen-Cilag EMEA; serves on the editorial boards of the Annals of Neurology and Epileptic Disorders; may accrue future revenue on a pending patent re: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females; has received speaker honoraria from Athena Diagnostics, UCB, Janssen-Cilag EMEA, and Eli Lilly and Company; has received funding for travel from Athena Diagnostics, UCB, and Janssen-Cilag EMEA; and receives/has received research support from the National Health and Medical Research Council of Australia, Health Research Council of New Zealand, The University of Melbourne, American Epilepsy Society, the Jack Brockhoff Foundation, and the Perpetual Charitable Trustees.