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Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene
Jess F Peterson1, Pankaj Thakur2, Abigail Peffer2
1Pittsburgh 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.
Insights
Infantile spasms (IS) are a severe epilepsy. This study reports a patient with a 7q11.23 microdeletion involving MAGI2, highlighting its role in seizure disorders and intellectual disability.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Infantile spasms (IS) are a severe epilepsy syndrome with significant intellectual disability.
- The genetic underpinnings of IS are complex, with MAGI2 identified as a key associated gene on chromosome 7q11.23-q21.11.
- Microdeletions in this region, particularly those affecting MAGI2, are linked to IS and other seizure disorders.
Purpose of the Study:
- To report a novel case of a de novo 7q11.23-q21.11 microdeletion involving MAGI2.
- To discuss the clinical presentation of infantile spasms, intellectual disability, and dysmorphic features in the context of this microdeletion.
- To explore the role of MAGI2 and other potential candidate genes in 7q11.23 deletion-associated neurodevelopmental disorders.
Main Methods:
- Array comparative genomic hybridization (aCGH) analysis was used to identify the microdeletion.
- Clinical data, including seizure history, intellectual disability, and dysmorphic features, were collected and analyzed.
- Literature review of previously reported cases with 7q11.23 microdeletions was performed.
Main Results:
- A 21-year-old female presented with a de novo 5.09 Mb microdeletion of 7q11.23-q21.11, encompassing the MAGI2 gene.
- The patient exhibited a history of seizure disorder, intellectual disability, and dysmorphic features consistent with 7q11.23 deletion syndrome.
- This case supports MAGI2 as a critical gene for seizure disorders within this chromosomal region.
Conclusions:
- The MAGI2 gene is strongly implicated in the pathogenesis of seizure disorders associated with 7q11.23 microdeletions.
- While MAGI2 is a primary candidate, other genes within the 7q11.23 region may also contribute to the neurodevelopmental phenotype in cases without MAGI2 involvement.
- Further research is needed to fully elucidate the genetic architecture of 7q11.23 deletion syndrome and its associated neurological manifestations.
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.
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