Regulating PMP22 expression as a dosage sensitive neuropathy gene

SHORT REPORT PMP22 related congenital hypomyelination neuropathy

The peripheral myelin protein 22 (PMP22) is a tetraspan membrane protein which is localised in the compact myelin of the peripheral nerves. In fibroblasts, where it was originally identified as growth arrest related factor 3 (Gas3), PMP22 has been shown to modulate cell proliferation; in the peripheral nervous system its roles are still debated. The duplication of PMP22 is the most common cause...

Diagnosis of gene dosage alterations at the PMP22 gene using MAPH.

G enomic rearrangements due to submicroscopic duplications or deletions are responsible for many inherited disorders, and a gene (or genes) sensitive to dosage alterations may be involved in these structural rearrangements. The segment involved is generally smaller than 2 Mb and cannot be detected by conventional karyotyping. Charcot-Marie-Tooth disease type 1A (CMT1A) [OMIM #118220] and heredi...

Genetic dosage compensation via co-occurrence of PMP22 duplication and PMP22 deletion.

Charcot-Marie-Tooth disease type 1 A (CMT1A, OMIM #118220) and hereditary neuropathy with liability to pressure palsies (HNPP or tomaculous neu-ropathy, OMIM #162500) are autosomal dominantly inherited neuropathies caused by genomic rearrangements on chromosome 17p11.2-p12 containing PMP22. Heterozygous PMP22 duplications result in a peripheral neuropathy characterized by distal muscular atroph...

Multiple Transcript Initiation as a Mechanism for Regulating Gene Expression

The Effects of PMP22 on Gene Expression throughout Development