Familial Hirschsprung Disease

Gene: PSPN

Comment 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.

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted