A novel composition of two heterozygous GFM1 mutations in a Chinese child with epilepsy and mental retardation.

Introduction: G elongation factor mitochondrial 1 (GFM1) encodes one of the mitochondrial translation elongation factors. GFM1 variants were reported to be associated with neurological diseases and liver diseases in a few cases. Here, we present a novel composition of two heterozygous mutations of GFM1 in a boy with epilepsy, mental retardation, and other unusual phenotypes.

Methods: The patient was found to be blind and experienced recurrent convulsive seizures such as nodding and hugging at the age of 3 months. After antiepileptic treatment with topiramate, he had no obvious seizures but still had mental retardation. The patient vomited frequently at 16 months old, sometimes accompanied by epileptic seizures. Hematuria metabolic screening, mutation screening of mitochondrial gene, and mitochondrial nuclear gene were negative. Then, he was analyzed by whole-exome sequencing (WES).

Results: Whole-exome sequencing revealed a novel composition of two heterozygous mutations in GFM1, the maternal c.679G > A (has not been reported) and the paternal c.1765-1_1765-2del (previously reported). At present, there is no specific and effective treatment for the disease, and the prognosis is very poor.

Conclusion: The discovery of new phenotypes and new genotypes will further enrich the diagnosis information of the disease and provide more experiences for clinicians to quickly diagnose the disease and judge the prognosis.