Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of Diff

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J Int Med Res. 2009 Sep-Oct;37(5):1626-31.

Molecular Diagnosis of PMP22 Gene Duplications and Deletions: Comparison of

Different Methods.

Stangler Herodez S, Zagradisnik B, Erjavec Skerget A, Zagorac A, Kokalj Vokac N.

Laboratory of Medical Genetics, University Clinical Centre Maribor, Maribor,

Slovenia.

Several techniques can be used to diagnose Charcot-Marie-Tooth disease type 1A

(CMT1A) and hereditary neuro pathy with liability to pressure palsies (HNPP),

but no technique combines simplicity with high sensitivity.

Multiplex ligation-dependent probe amplification (MLPA) was applied to develop

an efficient and sensitive test for the detection of duplication/deletion of the

peripheral myelin protein 22 (PMP22) gene.

The study sample included 70 probands that had each been previously analysed by

fluorescence in situ hibridization (FISH) and the restriction fragment length

polymorphism-polymerase chain reaction (RFLP-PCR) assay, both of which detect a

unique recombination fragment uniquely present in most patients with the

duplication. A total of nine duplications and 19 deletions were detected in the

70 probands using MLPA, and there was 100% concordance between MPLA and FISH.

A single duplication was missed by the RFLP-PCR assay, which accords with the

lower sensitivity of this method. It is concluded that the MLPA allows accurate

detection of PMP22 gene duplications/deletions and could be used for the

molecular diagnosis of these two neuropathies.