Abstract
There have been few case reports detailing the clinical presentation associated with contactin-associated protein-5 (CNTNAP5) mutations, especially those in isolation from other genetic abnormalities. Although elucidation of this gene’s function has proven difficult, research supporting its suspected role in the nervous system may prove useful in screening for developmental and intellectual disabilities like autism spectrum disorder (ASD). Therefore, we present a case of a pediatric patient that has had difficulty gaining weight throughout childhood and carries anomalous facial features including orbital hypertelorism and retrognathia. Mild learning difficulties were noticed at 4 years old alongside the onset of seizures. These observations suggested further diagnostic workup, but cardiovascular, neurological and renal tests were normal. Genetic testing was recommended, and an SNP array detected a 5.6 Mb deletion of 2q14.2 including the CNTNAP5 gene. Exome sequencing was negative, meaning that no additional polymorphisms in the protein-coding regions of the genome could explain the patient’s symptoms. Therefore, the absence of the CNTNAP5 gene is considered pathogenic for this patient’s condition. The patient’s cognitive delay, although not meeting criteria for ASD diagnosis, supports the gene’s neurologic role, potentially influencing synaptic connections via cell recognition and adhesion like its neurexin family members. Abnormal facial features have been associated with previous reports of CNTNAP5 mutations, but seizures are a unique finding. Variations of CNTNAP5 mutations are thought to cause different physiological presentations and may influence the severity of cognition impairment and autism association. By eliminating other genetic influences, a more accurate conclusion to CNTNAP5 gene function and phenotypical consequences of its absence can be elucidated.
Start Time
16-4-2025 1:30 PM
End Time
16-4-2025 4:00 PM
Presentation Type
Poster
Presentation Category
Health
Student Type
Clinical Doctoral Student (e.g., medical student, pharmacy student)
Faculty Mentor
Alvaro Serrano
Faculty Department
Genetics Services (associated with Pediatrics)
Determining Function of CNTNAP5 Gene using Pediatric Patient with Isolated Deletion
There have been few case reports detailing the clinical presentation associated with contactin-associated protein-5 (CNTNAP5) mutations, especially those in isolation from other genetic abnormalities. Although elucidation of this gene’s function has proven difficult, research supporting its suspected role in the nervous system may prove useful in screening for developmental and intellectual disabilities like autism spectrum disorder (ASD). Therefore, we present a case of a pediatric patient that has had difficulty gaining weight throughout childhood and carries anomalous facial features including orbital hypertelorism and retrognathia. Mild learning difficulties were noticed at 4 years old alongside the onset of seizures. These observations suggested further diagnostic workup, but cardiovascular, neurological and renal tests were normal. Genetic testing was recommended, and an SNP array detected a 5.6 Mb deletion of 2q14.2 including the CNTNAP5 gene. Exome sequencing was negative, meaning that no additional polymorphisms in the protein-coding regions of the genome could explain the patient’s symptoms. Therefore, the absence of the CNTNAP5 gene is considered pathogenic for this patient’s condition. The patient’s cognitive delay, although not meeting criteria for ASD diagnosis, supports the gene’s neurologic role, potentially influencing synaptic connections via cell recognition and adhesion like its neurexin family members. Abnormal facial features have been associated with previous reports of CNTNAP5 mutations, but seizures are a unique finding. Variations of CNTNAP5 mutations are thought to cause different physiological presentations and may influence the severity of cognition impairment and autism association. By eliminating other genetic influences, a more accurate conclusion to CNTNAP5 gene function and phenotypical consequences of its absence can be elucidated.