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Identiļ¬cation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Identiļ¬cation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.

Authors :
Ji T
Li D
Wu Y
Xiao J
Ji H
Wu X
Wang J
Jiang Y
Source :
Minerva pediatrics [Minerva Pediatr (Torino)] 2023 Feb; Vol. 75 (1), pp. 32-38. Date of Electronic Publication: 2016 Apr 08.
Publication Year :
2023

Abstract

Background: Clinical and genetic features were analyzed in five pedigrees with Pelizaeus-Merzbacher-like disease (PMLD) to provide bases for genetic counseling and prenatal diagnosis.<br />Conclusions: Six patients from five pedigrees were diagnosed with PMLD based on their clinical data. Six GJC2 novel mutations were found in this study, expanding the spectrum of GJC2 mutations. This is the second group of GJC2 mutations reported from six Chinese patients with PMLD.<br />Methods: Clinical data including medical history, physical signs, and auxiliary examinations were collected from six patients and their family numbers in five pedigrees with PMLD. Polymerase chain reaction and sequence analysis were used to amplify GJC2 and PLP1 alterations, while multiplex ligation-dependent probe amplification (MLPA) was performed to detect PLP1 dosage changes. The gene mutations were diagnosed for further analysis of the genetic features.<br />Results: A total of seven GJC2 mutations were identified in these patients, including two novel missense mutations (c.217C>T, p.Pro73Ser; c.1199C>A, p.Ala400Glu), one nonsense mutation (c.735C>A, p.Cys245X), three novel frameshift mutations (c.579delC, p.Gly193fsX17 and c.1296_1297insG, p.Gly433fsX59; c.689delG, p.Gly230AlafsX241), and one known missense mutation (c.814T>G, p.Tyr272Asp). Compound heterozygotes were found for P1-3, while homozygotes were found for P4-6 that were inherited from their parents with normal phenotypes except for P5 and P6, respectively. The c.814T>G (p.Tyr272Asp) mutation in P5 was de novo. A c.1199C>A (p.Ala400Glu) homozygous mutation in GJC2 was identified in P6. A heterozygous variation was found in his father and the wild type was seen in his mother.

Details

Language :
English
ISSN :
2724-5780
Volume :
75
Issue :
1
Database :
MEDLINE
Journal :
Minerva pediatrics
Publication Type :
Academic Journal
Accession number :
27057822
Full Text :
https://doi.org/10.23736/S2724-5276.16.04451-0