Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.

Autor:	Kulsirichawaroj P; Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand., Suksangkharn Y; Institute of Cognitive Neurology and Dementia Research, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.; German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany., Nam DE; Department of Biological Sciences, Kongju National University, Gongju, Korea., Pho-Iam T; Siriraj Genomics, Office of the Dean, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand., Limwongse C; Siriraj Genomics, Office of the Dean, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand.; Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand., Chung KW; Department of Biological Sciences, Kongju National University, Gongju, Korea., Sanmaneechai O; Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand.; Center of Research Excellence for Neuromuscular Diseases, Faculty of Medicine, Siriraj Hospital, Mahidol University, Nakhon Pathom, Thailand., Zuchner SL; Department of Human Genetics, University of Miami Health System, Miami, FL, USA., Choi BO; Department of Neurology, Samsung Medical Center, and Samsung Advanced Institute for Health Science & Tech, Sungkyunkwan University School of Medicine, Seoul, Korea.
Jazyk:	angličtina
Zdroj:	Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (1), pp. 191-199.
DOI:	10.3233/JND-230174
Abstrakt:	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.
Databáze:	MEDLINE
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