Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature

Table 1 NPC1 mutation sites in the patient, parents, sister and grandfather

Gene	Chromosomal Location (hg19)	HGVS Name	Gene Subregion	Type of Mutation	Zygotic State					ACM Rating
Gene	Chromosomal Location (hg19)	HGVS Name	Gene Subregion	Type of Mutation	Proband	Father	Mother	Sister	Grandfather	ACM Rating
NPC1	chr18:21114444	NM_000271.5: c.3557G > A (p. Arg1186His)	Exon 23	missense mutation	heterozygote	heterozygote	wild type	heterozygote	heterozygote	pathogenic
NPC1	chr18:21115458	NM_000271.5: c.3452 C > T (p. Ala1151Val)	Exon 22	missense mutation	heterozygote	heterozygote	heterozygote	wild type	wild type	May cause disease

ISSN: 1471-2334