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Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
Clin Neurol Neurosurg 2019; 184:105430CN

Abstract

The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range: 13-30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1.

Authors+Show Affiliations

Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China.Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, China National Clinical Research Center for Neurological Diseases, Beijing 100070, China. Electronic address: ttyy0142011@126.com.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31323543

Citation

Chen, Bin, et al. "Three Novel Mutations in a Group of Chinese Patients With X-linked Charcot-Marie-Tooth Disease." Clinical Neurology and Neurosurgery, vol. 184, 2019, p. 105430.
Chen B, Niu S, Wang X, et al. Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. Clin Neurol Neurosurg. 2019;184:105430.
Chen, B., Niu, S., Wang, X., Yu, X., Tang, H., Pan, H., & Zhang, Z. (2019). Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. Clinical Neurology and Neurosurgery, 184, p. 105430. doi:10.1016/j.clineuro.2019.105430.
Chen B, et al. Three Novel Mutations in a Group of Chinese Patients With X-linked Charcot-Marie-Tooth Disease. Clin Neurol Neurosurg. 2019;184:105430. PubMed PMID: 31323543.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease. AU - Chen,Bin, AU - Niu,Songtao, AU - Wang,Xingao, AU - Yu,Xueying, AU - Tang,Hefei, AU - Pan,Hua, AU - Zhang,Zaiqiang, Y1 - 2019/07/10/ PY - 2019/04/07/received PY - 2019/07/06/revised PY - 2019/07/09/accepted PY - 2019/7/20/pubmed PY - 2019/7/20/medline PY - 2019/7/20/entrez KW - CMTX1 KW - Chinese KW - Cx32 KW - GJB1 SP - 105430 EP - 105430 JF - Clinical neurology and neurosurgery JO - Clin Neurol Neurosurg VL - 184 N2 - The X-linked form of Charcot-Marie-Tooth disease type1 (CMTX1) is the second most common hereditary motor and sensory neuropathy caused by mutations in the gap junction beta 1 (GJB1) gene. Here, we report the clinical and genetic features of six unrelated Chinese patients with CMTX1, which were identified by genetic analysis. Among the 6 identified mutations, 3 were previously unknown (c.31A > T, c.42 C > G and c.423 del C). The six patients showed typical signs of CMT with a median age of onset of 16.5 years (range: 13-30). Sensorineural hearing loss was confirmed in the patient with the c.423 del C mutation. White matter lesions on brain magnetic resonance imaging (MRI) were observed in two patients. The three newly identified GJB1 mutations expand the clinical and mutational spectrum of CMTX1. SN - 1872-6968 UR - https://www.unboundmedicine.com/medline/citation/31323543/Three_novel_mutations_in_a_group_of_Chinese_patients_with_X-linked_Charcot-Marie-Tooth_disease L2 - https://linkinghub.elsevier.com/retrieve/pii/S0303-8467(19)30226-4 DB - PRIME DP - Unbound Medicine ER -