[Clinical features and FKRP mutations of congenital muscular dystrophy 1C]

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• Congenital muscular dystrophy type 1C (MDC1C) is a rare genetic neuromuscular disorder.
• It is characterized by muscle weakness and developmental delays from birth.
• MDC1C is primarily caused by mutations in the FKRP gene.

Observation:

• A male infant presented at 8 months with significant motor developmental delay.
• Clinical manifestations included hypotonia, absent reflexes, stereotyped facial expression, and strabismus.
• Genetic analysis identified compound heterozygous mutations in the FKRP gene: c.350C>G (maternal, known pathogenic) and c.1303C>T (paternal, novel, predicted pathogenic).

Findings:

• The patient was diagnosed with MDC1C based on clinical phenotype and FKRP gene sequencing.
• The identified FKRP gene mutations, including a novel missense mutation, confirm the genetic basis of the disease in this child.
• Bioinformatics analysis supported the pathogenicity of the novel c.1303C>T mutation.

Implications:

• This case expands the understanding of FKRP gene mutations associated with MDC1C.
• Highlights the importance of genetic testing in diagnosing complex pediatric neuromuscular disorders.
• Contributes to the clinical and genetic characterization of MDC1C, aiding future diagnostic and therapeutic strategies.