Retrospective study identifies one novel and four known mutations in pediatric axonal CMT, highlighting clinical features and molecular diagnostics.
Key Points
Identification of a novel homozygous frameshift variant in the IGHMBP2 gene enhances understanding of axonal charcot-marie-tooth disease.
Among five pediatric patients, absent deep tendon reflexes and distal muscle weakness were consistently observed, with three exhibiting intellectual disability.
This study employed whole exome sequencing and gene panel testing to uncover mutations linked to various axonal cmt subtypes in pediatric patients.
The findings call for increased awareness of unique phenotypic associations, as seen with the MPV17 mutation's co-occurrence with congenital heart disease.