[Niemann-Pick disease type C caused by NPC1 mutation in a case]

Area of Science:

• Genetics
• Biochemistry
• Pediatrics

Background:

• Niemann-Pick disease type C (NPC) is a rare lysosomal storage disorder.
• Genetic mutations in the NPC1 or NPC2 gene cause NPC.
• Early diagnosis and genetic understanding are crucial for patient management.

Observation:

• A Chinese boy presented with hepatosplenomegaly, elevated direct bilirubin, jaundice, and liver damage, suggestive of NPC.
• Next-generation sequencing identified compound heterozygous mutations in the NPC1 gene: c.2728G>A (p.G910S) and a novel mutation c.269C>G (p.P90R).

Findings:

• The identified mutations in the NPC1 gene confirm the diagnosis of Niemann-Pick disease type C in the patient.
• The c.2728G>A (p.G910S) mutation is a known pathogenic variant, while c.269C>G (p.P90R) represents a newly discovered mutation.
• Genetic analysis revealed the mutations were paternally and maternally inherited.

Implications:

• This case expands the known spectrum of NPC1 gene mutations associated with Niemann-Pick disease type C.
• The identification of a novel mutation provides valuable information for genetic counseling and prenatal diagnosis for families affected by NPC.
• Understanding genotype-phenotype correlations aids in predicting disease progression and developing targeted therapies.