Familial Hirschsprung Disease
Gene: PSPNComment when marking as ready: Marked as ready: August 14th 2017.Created: 14 Aug 2017, 3:02 p.m.
Comment on list classification: Kept rating as Red. Although PSPN is on the original expert list, it has 1 expert red review, and insufficient literature evidence to support a monogenic gene:phenotype association for Hirschsprung's.Created: 14 Aug 2017, 3:01 p.m.
PMID:18970938 find no association between PSPN polymorphisms tested and HSCR, although the role of other variants within this gene can not be ruled out.Created: 14 Aug 2017, 2:58 p.m.
PMID:21206993 (Ruiz-Ferrer et al., 2011) report association of PSPN gene with HSCR. Mutational screening of GDNF, NTRN, ARTN and PSPN was performed on 217 patients with HSCR (199 sporadic cases and 27 familial cases belonging to 13 different families). The authors report a R91C variant in PSPN (the patient also contained the common RET variant within the transcriptional enhancer in intron 1 of RET). Analysis of the R91C mutant showed a significant reduction in expression levels of PSPN protein.Created: 3 Aug 2017, 2:22 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18th October 2017: Revised and approved to Version 1.0 after expert and curator review. An expert list from Mr. Simon Kenny and Professor Robert Hofstra's groups (Alder Hey - Erasmus MC) formed the basis of the original panel. The expert list was then expanded based on a review of literature. Many of the literature genes remain red on the V1.0 panel as they were identified through association studies and/or they represent susceptibility/risk factors for Hirschsprung's disease (HSCR). Sumita Chhabra (Alder Hey) and Erwin Brosens (Erasmus) provided extensive feedback for genes on the panel, together with reviews from Merce Garcia-Barcelo.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for PSPN were set to 28543993; 21206993; 18970938
Publications for PSPN were set to 28543993; 21206993
Publications for PSPN were set to 28543993
PSPN was created by rfoulger
PSPN was added to Familial Hirschprungs Diseasepanel. Sources: Alder Hey - Erasmus MC