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Article

Genome sequencing in a case of Niemann-Pick type C.

Cold Spring Harbor molecular case studies - 1 Nov 2016

Dougherty Max, Lazar John, Klein Jason C, Diaz Karina, Gobillot Theodore, Grunblatt Eli, Hasle Nicholas, Lawrence Daniel, Maurano Megan, Nelson Maria, Olson Gregory, Srivatsan Sanjay, Shendure Jay, Keene C Dirk, Bird Thomas, Horwitz Marshall S, Marshall Desiree A

Abstract excerpt

Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27900365
DOI: 10.1101/mcs.a001222
PMCID: PMC5111003

Genes

NPC1
NPC2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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