In:
EMBO Molecular Medicine, EMBO, Vol. 6, No. 6 ( 2014-06), p. 795-809
Kurzfassung:
image Monoallelic and tissue‐specific expression of novel CADPS 2 gene variants was identified in two siblings with borderline cognitive decline and epilepsy, suggesting a role for CADPS 2 in intellectual disability and autism spectrum disorders. Two rare variants of maternal origin (an intragenic deletion and a missense change) were identified in CADPS 2 in a cohort of patients with neurodevelopmental abnormalities; the p. Asp1113Asn variant was shown to disrupt the interaction with dopamine receptor type 2 (D2 DR ). Differentially methylated sites were identified in CADPS 2 first intron, in blood and amygdala, but they did not show a parent‐of‐origin methylation pattern typical of an imprinted gene. Tissue‐specific, monoallelic maternal expression of CADPS 2 in blood and in the amygdala plays a key role in regulating social interactions and supports the importance of a fine modulation of CADPS 2 for human behavior. CADPS 2 variants may contribute to intellectual disability and autism susceptibility, and their role should be interpreted in light of possible parent‐of‐origin effect.
Materialart:
Online-Ressource
ISSN:
1757-4676
,
1757-4684
DOI:
10.1002/emmm.201303235
Sprache:
Englisch
Verlag:
EMBO
Publikationsdatum:
2014
ZDB Id:
2485479-7
Permalink