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.
Insights
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.
Abstract:
of Medical History: A male infant, 8 months old, was admitted to hospital with cough and fever. The clinical symptoms were found to be mental retardation, obesity, dystonia, movement limitation, and visual retardation. Early development was normal, but after 6 months, the child developed upright head instability, difficulty grasping, and seizures. Symptoms and Signs: The child presents with mental retardation, obesity, increased muscle tone, motor dysfunction, visual impairment, and seizures.
Diagnosis:
A whole exon test was performed to detect a neurite extension and migration factor (NEXMIF) gene mutation (NM_001008537.2: c.1042C > T (p. Arg348*)), which is known to be associated with intellectual disability and neurological symptoms. In addition, the test revealed a mutation in the Kinase D interacting substrate of 220 kDa (KIDINS220) gene (NM_020738.2: c.3242_3243insC (p. Leu1082AIafs*5)) with a heterozygous mutation in the father and wild type in the mother.
Treatment:
The patient was treated with anti-infection, aerosol inhalation, calcium supplement, and anti-epileptic drugs (levetiracetam), and the disease was controlled. Home and hospital rehabilitation is also underway.
Clinical Outcome:
The condition of the child improved after treatment and no seizures occurred again. The patient needs continuous rehabilitation treatment and follow-up observation.
Conclusion:
For male children with unexplained neurodevelopmental disorders and comorbidities such as obesity, dystonia, and seizures, mutations in related genes such as NEXMIF should be considered. Clinical practice should improve genetic testing as early as possible to provide a basis for genetic counseling.
