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| Clinical characteristics and genetic analysis of a family of hereditary neuropathy with liability to pressure palsies |
| GE Xiushan1 BAI Jinli2 JIAO Hui1 PENG Xiaoyin1▲ |
1.Department of Neurology, Children Hospital Affiliated to Capital Institute of Pediatric, Beijing 100020, China;
2.Department of Medical Genetics, Capital Institute of Pediatric, Beijing 100020, China |
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Abstract Objective To analyze and summarize the clinical characteristics, and genetic analysis of peripheral myelination protein 22 (PMP22) gene in the proband and their family members of hereditary neuropathy with liability to pressure palsy (HNPP). Methods Child with HNPP who admitted to Department of Neurology, Children Hospital Affiliated to Capital Institute of Pediatric in May 2018 was selected as research object. The clinical manifestations of the proband and family members were analyzed and the electrophysiological examination was improved. The peripheral blood genomic DNA of the proband and their family members was extracted, and the second-generation sequencing technology based on target sequence acquisition was used to screen the mutations of single gene diseases of skeletal muscle nervous system. Multiplex ligation-dependent probe amplification (MLPA) was used to verify the absence of the proband and their parents and other family members. Results Paroxysmal, periodic and pressure-susceptible peripheral nerve palsy was the main characteristics for this patient. Electromyogram showed neurological damage and the symptoms disappeared between episodes. The results of the in-depth analysis of the second-generation sequencing technology indicated that the patient might have a large deletion about 1.38 Mb in the region of Chr17: 14095223-15477566 and this region mainly includes the PMP22 gene associated with HNPP. MLPA results verified that large fragments of heterozygosity were absent in the PMP22 gene and its adjacent regions (TEKT3 and COX10 gene). Parental verification analysis revealed that the defect originated from the mother of the child. Conclusion HNPP is a recurrent peripheral neuropathy with some clinical and genetic heterogeneity. On the basis of mastering the clinical characteristics of the children, the electrophysiological examination can provide diagnostic clues for them, while the genetic test as the basis of diagnosis is worthy of attention.
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