Analysis of heterozygous duplication of PMP22 gene in a pedigree affected with Charcot Marie Tooth disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To analyze mutation of the PMP22 gene in a pedigree affected with Charcot-Marie-Tooth disease.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of the proband and members from his family, and fetal DNA was extracted from amniotic fluid sample. Multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (array-CGH) analyses were carried out to determine the copy number of the PMP22 gene. Sanger sequencing was carried out to detect point mutations of the PMP22 gene.</p><p><b>RESULTS</b>A heterozygous duplication of the PMP22 gene was detected in the proband and his father, while no point mutation, insertion or deletion was found in them. No duplication or deletion of the PMP22 gene was found in other family members.</p><p><b>CONCLUSION</b>Based on clinical symptoms and genetic findings, the heterozygous duplication of the PMP22 gene is probably the cause of the disease in the proband. The fact that the father has carried the same duplication but with no detectable symptom may be due to irregular transmission pattern of the mutation. Genetic counseling for the family should therefore be with caution.</p>