title: Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene.
abstract: Infantile spasms (IS) are a severe form of epilepsy characterized by hysparrhythmia on EEG, spasms, and intellectual disability. Typically occurring before one year of age, 40-60% of patients diagnosed with IS eventually develop other seizure disorders later in life. The etiology of IS is broad, and only recently have IS-associated genes been identified. MAGI2, an implicated IS-associated gene located within the 7q11.23-q21.11 chromosome region, encodes for a synaptic scaffolding protein involved in synaptic development and function. To date, several case reports of patients with 7q11.23-q21.11 microdeletions involving MAGI2 have been described, with the majority presenting with IS or other seizure disorders that are attributed to loss of heterozygosity of the MAGI2 gene. In addition, several other patients with 7q11.23 microdeletions not including MAGI2 have been described with clinical features that include IS, epilepsy, intellectual disabilities, and neurobehavioral problems, suggesting additional IS-associated candidate genes within the 7q11.23 region. Adding to the literature, we report on a 21-year-old female with a de novo 5.09 Mb 7q11.23-q21.11 microdeletion (aCGH analysis) involving the MAGI2 gene with a history of seizure disorder, intellectual disability, and dysmorphic features. Although we agree that MAGI2 is the most likely candidate gene for seizure disorder in our patient, other candidate genes must be considered in 7q11.23 deletion cases not spanning the MAGI2 gene.
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA.
authors.forename: Jess F
authors.initials: JF
authors.lastname: Peterson
authors.affiliation: Department of Medical Genetics, Magee-Womens Hospital of UPMC, Pittsburgh, PA.
authors.forename: Pankaj
authors.initials: P
authors.lastname: Thakur
authors.affiliation: Department of Medical Genetics, Magee-Womens Hospital of UPMC, Pittsburgh, PA.
authors.forename: Abigail
authors.initials: A
authors.lastname: Peffer
authors.affiliation: Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Hospital of UPMC, Pittsburgh, PA.
authors.forename: Marta
authors.initials: M
authors.lastname: Kolthoff
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA.
authors.forename: Sally J
authors.initials: SJ
authors.lastname: Kochmar
authors.affiliation: Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, PA, and Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, and Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA.
authors.forename: Urvashi
authors.initials: U
authors.lastname: Surti