Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures

Creator(s)

Laurie D. Smith, Children's Mercy Hospital
Carol J. Saunders, Children's Mercy HospitalFollow
Darrell L. Dinwiddie
Andrea M. Atherton, Children's Mercy Hospital
Neil A. Miller, Children's Mercy HospitalFollow
Sarah E. Soden, Children's Mercy HospitalFollow
Emily G. Farrow, Children's Mercy HospitalFollow
Ahmed T G Abdelmoity, Children's Mercy HospitalFollow
Stephen F. Kingsmore, Children's Mercy Hospital

Document Type

Article

Publication Date

2013

Identifier

doi: 10.4137/JGE.S12583

Abstract

A de novo somatic mutation in the mammalian target of rapamycin (MTOR) has previously been described in one patient with hemimegalencephaly and epilepsy. Here, we present a case of a young girl with megalencephaly and intractable seizures who was found to have an MTOR mutation in multiple cell lineages (p.Cys1483Phe) and, therefore, presumed to be of germline origin. The mutation was detected in peripheral blood DNA by exome sequencing of the patient and her parents, substantiating the utility of this approach for detection of clinically relevant de novo variations.

Journal Title

Journal of Genomes and Exomes

Volume

2

First Page

63

Last Page

72

Keywords

Exome, genome, diagnosis, seizure, megalencephaly, de novo mutation, bioinformatics

Recommended Citation

Smith, L. D., Saunders, C. J., Dinwiddie, D. L., Atherton, A. M., Miller, N. A., Soden, S. E., Farrow, E. G., Abdelmoity, A. T., Kingsmore, S. F. Exome Sequencing Reveals De Novo Germline Mutation of the Mammalian Target of Rapamycin (MTOR) in a Patient with Megalencephaly and Intractable Seizures Journal of Genomes and Exomes 2, 63-72 (2013).