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Article

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

American journal of human genetics - 8 Jun 2012

Smith Katherine R, Damiano John, Franceschetti Silvana, Carpenter Stirling, Canafoglia Laura, Morbin Michela, Rossi Giacomina, Pareyson Davide, Mole Sara E, Staropoli John F, Sims Katherine B, Lewis Jada, Lin Wen-Lang, Dickson Dennis W, Dahl Hans-Henrik, Bahlo Melanie, Berkovic Samuel F

Abstract excerpt

We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two linkage peaks with maximum LOD scores of 3.07 and 2.97 were found on chromosomes 7 and 17, respectively. Unexpectedly, we found these siblings to be homozygous for a c.813_816del (p.Thr272Serfs∗10) mutation in the progranulin gene (GRN, granulin precursor) in the...

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Identifiers

PMID: 22608501
DOI: 10.1016/j.ajhg.2012.04.021
PMCID: PMC3370276

Genes

NCL
GRN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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