Pain syndromes

Gene: NAGLU

Marked as amber as only 2 families reported (one also have a het mutation in a know recessive CMT gene). Keep on the watchlist

Created: 13 Jul 2017, 10:15 a.m.

I don't know

Comment on list classification: Only two families to date. To be reviewed by clinical team regarding the pertinence of this gene

Created: 11 Jul 2017, 1:33 p.m.

Mucopolysaccharidosis type IIIB, is caused by homozygous or compound heterozygous mutation in the gene encoding N-alpha-acetylglucosaminidase (NAGLU). Painful axonal polyneuropathy in heterozygotes mucopolysacharidosis IIIB when homozygous. Two families PMID: 25818867 (2015) with Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation (note OMIM report this as one family). The reported that carriers from two families of a severe pathogenic mutation in NAGLU develop a late dominant painful axonal sensory neuropathy that evolves into a mild sensory ataxia with late electrophysiological signs of a concomitant motor polyneuropathy that together would allow it to be referred to as a (Charcot-Marie-Tooth disease, axonal, type 2V) CMT2

Created: 11 Jul 2017, 1:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

• 25818867
• 12202988