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

OBJECTIVE

To delineate the clinical and genetic features of a Chinese boy suspected for Niemann-Pick disease type C.

METHODS

The patient underwent clinical examination and was subjected to next generation sequencing. Suspected mutations were validated by Sanger sequencing. Potential impact of the novel mutation was predicted by SIFT, PolyPhen-2 and MutationTaster software.

RESULTS

The child has featured hepatosplenomegaly, increased direct bilirubin, jaundiced skin and liver damage. DNA sequencing showed that he has carried compound heterozygous mutations of NPC1 gene, namely c.2728G<A (p.G910S) and c.269C>G (p.P90R), which were inherited from his mother and father, respectively. The c.2728G>A (p.G910S) mutation was previously reported, while the c.269C>G (p.P90R) was a novel mutation.

CONCLUSION

The child has suffered from Niemann-Pick disease type C due to mutations of NPC1 gene. Above finding has enriched the spectrum of NPC1 mutations and provided a basis for genetic counseling and prenatal diagnosis.