A family with early-onset Charcot-Marie-Tooth disease(CMT)4F caused by a novel mutation of the PRX gene
YANG Yan-zhang
LUO Lei
WANG Li
Abstract：This paper retrospectively analyzes the clinical manifestations,neuroelectrophysiology,and genetic testing results of a 7-month-old boy,who was admitted to Department of Pediatrics of Hebei People's Hospital for treatment in May 2020 because of delayed motor development(four months delayed).He was with early-onset Charcot-Marie-Tooth disease(CMT)4F caused by a novel mutation of the PRX gene.Genetic testing showed that both the proband and his brother had homozygous frameshift mutation in the PRX gene(NM_181882.3)c.2320_2321 delinsTTC(p.V774Ffs*53),which was respectively inherited from their parents who were carriers.Literature analysis shows that children with this disease often exhibit delayed motor development milestones,symmetrical muscle atrophy at the distal ends of both lower limbs,sensory ataxia,decreased motor nerve conduction velocity,and demyelinating changes.Early genetic testing can help clarify the diagnosis and provide genetic counseling for the family.
Keywords：Charcot-Marie-Tooth disease(CMT)4FDejerine-Sottas diseaseperiaxin geneclinical phenotype
Publication Date：2025-01-05
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 84-88 )