Clinical phenotype and genetic analysis of a case of Charcot Marie Tooth type 2S caused by a new mutation of IGHMBP2 gene and literature review
Aim:To determine the clinical phenotype and genetic etiology of a child with Charcot-Marie-Tooth(CMT).Methods:Clinical and laboratory tests were performed on a child with weakness of both lower limbs and grasping hands,whole exome(WES)sequencing was used to detect genetic variation,and Sanger sequencing was used to verify the genetic variation of the proband and parents.Results:The proband had complex heterozygous variants in the IGHMBP2 gene,being derived from the mother c.1633-6T>G and the father c.608C>A(p.A203E),both were denovo variants and were diag-nosed with CMT type 2S(CMT 2S).According to the pathogenicity classification of the United States ACMG guidelines,c.1633-6T>G(PM2)and c.608C>A(p.A203E)(PM2+PP3)were all variants of unclear significance.Conclusion:The newly discoveredcompoundheterozygousvariantsof IGHMBP2 genec.1633-6T>Gandc.608C>A(p.A203E)arethepos-sible genetic causes of muscle weakness and neurogenic electrophysiological damage in children with CMT.
Charcot Marie ToothIGHMBP2 geneelectromyographychildren
万方数据
维普
