NEXMIF Combined with KIDINS220 Gene Mutation Caused Neurodevelopmental Disorder and Epilepsy: One Case Report.
Hongli Qi1, Dongju Pan1, Ying Zhang1
1Department of Pediatrics, Pu'er People's Hospital, 665000 Pu'er, Yunnan, China.
Actas Espanolas De Psiquiatria
|August 12, 2024
Summary
Genetic testing identified mutations in the neurite extension and migration factor (NEXMIF) gene in an infant with developmental delays and seizures. Early genetic screening is crucial for diagnosing neurodevelopmental disorders in children.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Pediatric Neurology
Background:
- A male infant presented with delayed development, obesity, dystonia, and seizures starting at 6 months of age.
- Initial symptoms included head instability, difficulty grasping, and generalized seizures, alongside significant motor and visual impairments.
Observation:
- Whole exome sequencing revealed a mutation in the NEXMIF gene (NM_001008537.2: c.1042C > T (p. Arg348*)).
- A mutation was also identified in the KIDINS220 gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)), inherited from the father.
Findings:
- The patient received treatment including anti-infectives, aerosol inhalation, calcium supplements, and levetiracetam for seizure control.
- Rehabilitation therapy was initiated, leading to symptom improvement and cessation of seizures.
Implications:
- This case highlights the importance of considering NEXMIF gene mutations in male infants with unexplained neurodevelopmental disorders and comorbidities.
- Early genetic testing is recommended to facilitate timely diagnosis, genetic counseling, and appropriate management strategies for affected children.
