期刊
JOURNAL OF HUMAN GENETICS
卷 64, 期 9, 页码 961-965出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/s10038-019-0636-y
关键词
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资金
- Korean Health Technology R&D Project, Ministry of Health Welfare [HI14C3484, HI16C0426]
- National Research Foundation, Republic of Korea [2017R1A2A2A05001356, 2017R1A2B2004699, 2018R1A4A1024506]
- National Research Foundation of Korea [2017R1A2B2004699, 2018R1A4A1024506, 2017R1A2A2A05001356] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients. The frequency of the CMT4C was calculated as 0.79% in demyelinating and intermediate patients (n = 504), but it was calculated as 2.02% in patients without PMP22 duplication (n = 198). The CMT4C frequency was similar to patients in Japan, but it was relatively low compared to those patients in other populations. The symptom was less severe and slowly progressed compared to the other AR-CMT. A patient harboring an intermediate neuropathy showed cranial nerve involvement but did not have scoliosis. This study will be helpful in making molecular diagnoses of demyelinating or intermediate CMT due to SH3TC2 mutations.
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