Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
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DOI：
10.1002/humu.9261
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发表时间：
2004-08-01
期刊：
影响因子：
3.9
通讯作者：
Chung, Ki Wha
中科院分区：
文献类型：
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作者：
Choi, Byung-Ok;Lee, Mi Sun;Chung, Ki Wha
我们检查了 57 个被诊断为腓骨肌萎缩症 (CMT) 患者的韩国家庭中 17p11.2-p12 的 CMT1A 重复以及 PMP22、MPZ (P0)、GJB1 (Cx32)、EGR2 和 NEFL 基因的突变。 28 名 CMT 1 型患者中，53.6% 存在 CMT1A 重复。在42个无CMT1A重复的CMT家系中，9个家系中发现了10个致病突变。在 105 名健康对照者中未检测到这 10 种突变。七个突变（PMP22 中的 c.318delT (p.Ala106fs)、c.352G>A (p.Asp118Asn)、c.449-1G>T（3' 剪接位点）、MPZ 中的 c.706A>G (p.Lys236Glu)、c.407T>C (p.Val136Ala)[已校正]， GJB1 中的 c.502T>C (p.Cys168Arg) 和 NEFL 中的 c.1001T>C (p.Leu334Pro) 被确定为新颖的。 PMP22 和 MPZ 的突变频率与在几个欧洲人群中发现的相似，然而，东亚 CMT 患者中 GJB1 突变的频率似乎低于欧洲患者。我们根据神经传导研究描述了已识别的突变和表型-基因型相关性。
We examined CMT1A duplication of 17p11.2-p12, mutations of PMP22, MPZ (P0), GJB1 (Cx32), EGR2 and NEFL genes in 57 Korean families with patients diagnosed as having Charcot-Marie-Tooth (CMT) disease. The CMT1A duplication was present in 53.6% of 28 CMT type 1 patients. In the 42 CMT families without CMT1A duplication, 10 pathogenic mutations were found in 9 families. The 10 mutations were not detected in 105 healthy controls. Seven mutations (c.318delT (p.Ala106fs) in PMP22, c.352G>A (p.Asp118Asn), c.449-1G>T (3'-splice site), c.706A>G (p.Lys236Glu) in MPZ, c.407T>C (p.Val136Ala)[corrected], c.502T>C (p.Cys168Arg) in GJB1, and c.1001T>C (p.Leu334Pro) in NEFL) were determined to be novel. The mutation frequencies of PMP22 and MPZ were similar to those found in several European populations, however, it appeared that mutations in GJB1 are less frequent in East Asian CMT patients than in Eur opean patients. We described the identified mutations and phenotype-genotype correlations based on nerve conduction studies.