Screening of the 17p11.2-p12 region in a large cohort of patients with CMT disea

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J Appl Genet. 2009;50(3):283-8.

Screening of the 17p11.2-p12 region in a large cohort of patients with

Charcot-Marie-Tooth (CMT) disease or hereditary neuropathy with liability to

pressure palsies (HNPP).

Kabzinska D, Pierscinska J, Kochanski A.

Neuromuscular Unit, Mossakowski Medical Research Centre, Polish Academy of

Sciences, Pawinskiego 5, 02-106 Warszawa, Poland.

Within the last decade, numerous methods have been applied to detect the most

common mutation in patients affected with Charcot-Marie-Tooth (CMT) disease,

i.e. submicroscopic duplication in the 17p11.2-p12 region. In 1993, another

neuropathy - known as hereditary neuropathy with liability to pressure palsies

(HNPP) - has been shown to be caused by a 17p11.2-p12 deletion. Historically,

Southern blot analysis was the first approach to identify CMT1A duplication or

HNPP deletion.

This time- and labor-consuming method requires prior selection of DNA samples.

In fact, only CMT patients affected with the demyelinating form of CMT1 have

been screened for CMT1A duplication.

After the 17p11.2-p12 duplication was identified in the CMT1 families,

subsequent studies revealed additional axonal features in the patients harboring

the 17p11.2-p12 duplication.

Thus it seems reasonable to test all patients affected with CMT for the presence

of the 17p11.2-p12 duplication.

To evaluate the utility of real-time polymerase chain reaction (Q-PCR) and

restriction fragment length polymorphism PCR (RFLP-PCR), we screened a large

group of 179 families with the diagnosis of CMT/HNPP for the presence of the

17p11.2-p12 duplication/deletion. Due to a high frequency of CMT1A duplication

in familial cases of CMT, we propose (in contrast to the previous studies) to

perform Q-PCR analysis in all patients diagnosed with CMT.