Pain syndromes
Gene: NAGLUMarked as amber as only 2 families reported (one also have a het mutation in a know recessive CMT gene). Keep on the watchlistCreated: 13 Jul 2017, 10:15 a.m.
Comment on list classification: Only two families to date. To be reviewed by clinical team regarding the pertinence of this geneCreated: 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) CMT2Created: 11 Jul 2017, 1:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920; Late-onset painful sensory neuropathy, AD
Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) (AR), 252920; Late-onset painful sensory neuropathy (AD)
Mode of inheritance for NAGLU was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B) (AR); 252920;Late-onset painful sensory neuropathy (AD)
NAGLU was added to Pain syndromespanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services
Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B);252920
Phenotypes for NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B);252920
This gene has been classified as Amber List (Moderate Evidence).
NAGLU was added to Pain syndromespanel. Sources: Literaure,Review
NAGLU was created by LouiseD