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Purpose The object of this study was to identify PLP1 and GJC2 mutations in 72 Chinesepatients (P1-72) with Pelizaeus-Merzbacher disease (PMD) /PMLD and prenataldiagnosis of fifteen fetuses in twelve Chinese families with PMD probands. Methods Genomic DNA was extracted from peripheral bloodssamples.Amniotic fluid/chorionic villus sampling was performed. Genedosage was determined by MLPA. All 7 exons and exon-intron boundaries of PLP1gene were amplified and analyzed by direct DNA sequencing. Results Of these 72patients, there were 18 transitional, 45 classical, and 9 congenital PMDaccording to the clinical and radiological presentation. PLP1duplications were identified in patients 1-52 withPMD, account for 72.2% (52/72). Their mothers were PLP1 duplicationscarriers except P52’mother was wildtype. 15 hemizygous missense mutations includingeight novel mutations and one reported splicing mutation were found in 17 Patients(P53-69) with PMD（23.6%）. For three patients without PLP1mutation, we then tested GJC2 mutations with c.925_938del(p.A309Pfs342X), c.201C>G(p.C67T),c.689delG (p.G230Afs), c.735C>A（p.C245X), and c.1199C>A (p.A400E).For the results of prenatal diagnosis (male 9 and female 6), 9 fetuses werePLP1 wildtype, 1 was with PLP1 duplication carrier, and 5 found PLP1duplication and 1 with c.623G>T (G208V). Conclusions We identified 52 genomic duplications and fifteen missense/splicing mutation of PLP1gene in 69 Chinese patientswith PMD and five missense/framshift mutations in three patients with PMLD. Prenatal diagnoses for fifteenfetuses in twelve PMD proband families were performed, which is useful andhelpful for those families.

Pelizaeus-Merzbacher disease (PMD). proteolipid protein 1(PLP1). gap junctionα12(GJC2) . prenatal diagnosis