AUTHOR=Cao Gao-Hui , Zhao Mei-Fang , Dong Yi , Fan Liang-Liang , Liu Yi-Hui , Deng Yao , Tang Lu-Lu 

TITLE=Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot–Marie–Tooth disease

JOURNAL=Frontiers in Neurology

VOLUME=15

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2024.1319962

DOI=10.3389/fneur.2024.1319962

ISSN=1664-2295

ABSTRACT=<p>This report presents a case of Charcot–Marie–Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot–Marie–Tooth disease, in a 52 years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C&gt;A/p.His49Asn) of <italic>MPZ</italic> may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of <italic>MPZ</italic>, was neutral. Our study expands the variant spectrum of <italic>MPZ</italic> and the number of identified CMTDID patients, contributing to a better understanding of the relationship between <italic>MPZ</italic> and CMTDID.</p>