Genetic Mutation Research from Croatia

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Genetic Mutation Research from Croatia

1: Clin Chem Lab Med 2002 Jun;40(6):559-62

Mutation analysis of the MPZ and PMP22 genes in Croatian patients.

Grskovic B, Ferencak G, Rukavina AS, Karija M, Furac I, Kubat M.

Clinical Institute of Laboratory Diagnosis, Zagreb University School

of Medicine and Clinical Hospital Center, Croatia. bgrskov@...

ABSTRACT:

We used single-strand conformation polymorphism analysis for mutational

screening in two candidate genes, MPZ and PMP22, which have an important

role in the pathogenesis of Charcot-Marie-Tooth disease (CMT) and

related peripheral neuropathies. A novel Ser8Ser polymorphism was found

in exon 1 of the MPZ gene in two heterozygous subjects, in a father with

mild CMT2 phenotype and his daughter with normal clinical data. Thr118Met

polymorphism was found in exon 5 of the PMP22 gene. The patient heterozygous

for 118Met allele had CMT1 disease. We can conclude that the occurrence

of the 118Met allele does not usually cause CMT1 and that it is not a

clinically relevant disease marker.