Infantile neuroaxonal dystrophy caused by PLA2G6 gene mutation in a Chinese patient: A case report

Area of Science:

• Genetics
• Neurodegenerative Diseases
• Pediatric Neurology

Background:

• Infantile neuroaxonal dystrophy (INAD) is a rare, inherited neurodegenerative disorder.
• Mutations in the Phospholipase A2 group VI (PLA2G6) gene are the primary cause of INAD.
• INAD with hearing loss is exceptionally rare, with limited investigation into PLA2G6 gene involvement.

Purpose of the Study:

• To report a case of INAD with deafness in a Chinese pediatric patient.
• To identify and characterize novel PLA2G6 gene mutations associated with INAD in this patient.
• To contribute to the understanding of PLA2G6 mutations in diverse populations.

Main Methods:

• Next-generation DNA sequencing to identify disease-causing genes.
• Sanger sequencing for mutation verification within the patient's family.
• Bioinformatic analysis using population databases (dbSNP, HapMap, 1000 Genomes, ExAC).

Main Results:

• A Chinese female pediatric patient (18 months) diagnosed with INAD and deafness.
• Identification of two novel mutations in the PLA2G6 gene: c.1T>C (p.M1?) and c.497_496insC (p.I166Nfs*3).
• These mutations were absent in major population databases, suggesting they are rare or private.

Conclusions:

• The identified PLA2G6 mutations are likely pathogenic and contribute to INAD in this Chinese patient.
• This case highlights unique PLA2G6 mutations in Chinese INAD patients, broadening the known mutation spectrum.
• Further research is needed to understand the prevalence and clinical significance of these mutations in INAD.