Re: MPZ (myelin) CMT 1A or B ?

[Guest guest]

CMT 1A and 1B map to different chromosones.

http://www.mdausa.org/research/carter.html

There are several notable subtypes. HMSN type 1a has a DNA

duplication at the 17p11.2 locus for the peripheral myelin protein 22

(PMP22) gene. Point mutations in the PMP22 gene have recently been

identified in some HMSN 1a patients who did not exhibit the

duplication (11,12).

The defect in HMSN type 1b is located on chromosome 1 with another

myelin protein defect (12,13). Five families have been reported with

autosomal dominant HMSN 1b mapping to chromosome 1q21-23 (13).

http://brain.oxfordjournals.org/cgi/content/full/122/2/281

CMT1A is associated with mutations in the peripheral myelin protein

22 gene (PMP22) on chromosome 17p11.2, and the most frequent mutation

is a 1.5 Mb tandem duplication comprising PMP22.

The less common CMT1B form is caused by mutations in the major

peripheral myelin protein zero gene (MPZ) on chromosome 1q22-q23.

[Guest guest]

Thanks Gretchen!