Intellectual disability update Jan 2018

Gene: NLRP3

I don't know

There are strong links between variants in this gene and disorders of the immune system (CINCA/NOMID syndrome; Familial cold-induced inflammatory syndrome 1), however the literature (PMID: 17646489; PMID: 28328126) suggests that some of these patients also exhibit developmental delay and mental retardation. In one paper (17646489), all 17 patients (with NOMID) studied were noted to have developmental delay, with 11 of these patients having a known variant in NLRP3, although it should be noted that one of the 17 patients had no detectable variant in this gene. Details into the specifics of each patient's developmental delay was not provided.
In the other paper (28328126), a patient with microcephaly and mental retardation is noted to have a deletion affecting this gene amongst others.

Created: 28 Feb 2018, 3:08 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

• 17646489
• 28328126