Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand
Issued Date
2024-01-02
Resource Type
ISSN
22143599
eISSN
22143602
Scopus ID
2-s2.0-85181852750
Pubmed ID
37927275
Journal Title
Journal of Neuromuscular Diseases
Volume
11
Issue
1
Start Page
191
End Page
199
Rights Holder(s)
SCOPUS
Bibliographic Citation
Journal of Neuromuscular Diseases Vol.11 No.1 (2024) , 191-199
Suggested Citation
Kulsirichawaroj P., Suksangkharn Y., Nam D.E., Pho-Iam T., Limwongse C., Chung K.W., Sanmaneechai O., Zuchner S.L., Choi B.O. Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand. Journal of Neuromuscular Diseases Vol.11 No.1 (2024) , 191-199. 199. doi:10.3233/JND-230174 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/95681
Title
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand
Corresponding Author(s)
Other Contributor(s)
Abstract
Background: Inherited peripheral neuropathy presents a diagnostic and therapeutic challenge due to its association with mutations in over 100 genes. This condition leads to long-term disability and poses a substantial healthcare burden on society. Objective: This study aimed to investigate the distribution of genes and establish the genotype-phenotype correlations, focusing on pediatric-onset cases. Methods: Exome sequencing and other analytical techniques were employed to identify pathogenic variants, including duplication analysis of the PMP22 gene. Each patient underwent physical examination and electrophysiological studies. Genotypes were correlated with phenotypic features, such as age at disease onset and ulnar motor nerve conduction velocity. Results: We identified 35 patients with pediatric-onset inherited peripheral neuropathy. Pathogenic or likely pathogenic variants were confirmed in 24 out of 35 (68.6%) patients, with 4 of these variants being novel. A confirmed molecular diagnosis was achieved in 90.9% (10/11) of patients with demyelinating Charcot-Marie-Tooth disease (CMT) and 56.3% (9/16) of patients with axonal CMT. Among patients with infantile-onset CMT (≤2 years), the most common causative genes were MFN2 and NEFL, while GDAP1 and MFN2 were frequent causes among patients with childhood- or adolescent-onset CMT (3-9 years). Conclusions: The MFN2 gene was the most commonly implicated gene, and the axonal type was predominant in this cohort of Thai patients with pediatric-onset inherited peripheral neuropathy.