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PMP22 ‐Related neuropathies and other clinical manifestations in Chinese han patients with charcot‐marie‐tooth disease type 1
Author(s) -
Zhan Yajing,
Zi Xiaohong,
Hu Zhengmao,
Peng Ying,
Wu Lingqian,
Li Xiaobo,
Jiang Mingming,
Liu Lei,
Xie Yongzhi,
Xia Kun,
Tang Beisha,
Zhang Ruxu
Publication year - 2015
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.24550
Subject(s) - multiplex ligation dependent probe amplification , proband , peripheral myelin protein 22 , gene duplication , genetics , single nucleotide polymorphism , medicine , point mutation , snp array , restriction fragment length polymorphism , biology , polymerase chain reaction , genotype , mutation , gene , exon
: Most cases of Charcot‐Marie‐Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene ( PMP22 ), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E). Methods : Single‐nucleotide polymorphism (SNP) arrays were used to study PMP22 mutations based on the results of multiplex ligation‐dependent probe amplification (MLPA) and polymerase chain reaction–restriction fragment length polymorphism methods in 77 Chinese Han families with CMT1. PMP22 sequencing was performed in MLPA‐negative probands. Clinical characteristics were collected for all CMT1A/HNPP probands and their family members. Results : Twenty‐one of 77 CMT1 probands (27.3%) carried duplication/deletion (dup/del) copynumber variants. No point mutations were detected. SNP array and MLPA seem to have similar sensitivity. Fifty‐seven patients from 19 CMT1A families had the classical CMT phenotype, except for 1 with concomitant CIDP. Two HNPP probands presented with acute ulnar nerve palsy or recurrent sural nerve palsy, respectively. Conclusions : The SNP array has wide coverage, high sensitivity, and high resolution and can be used as a screening tool to detect PMP22 dup/del as shown in this Chinese Han population. Muscle Nerve 52 : 69–75, 2015