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Case Reports in Genetics
Volume 2014 (2014), Article ID 946010, 3 pages
http://dx.doi.org/10.1155/2014/946010
Case Report

Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies

1Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea
2Department of Rehabilitation Medicine, The Catholic University of Korea, Street Vincent’s Hospital, 93-6 Ji-dong, Paldal-gu, Suwon, Gyeonggi-do 442-723, Republic of Korea
3Samkwang Medical Laboratories, 9-60 Yangjae-dong, Seocho-gu, Seoul 137-887, Republic of Korea
4Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 62 Yeouido-dong, Yeongdeungpo-gu, Seoul 150-713, Republic of Korea
5Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, 20 Ilsan-ro, Ilsandong, Wonju, Gangwon-do 220-701, Republic of Korea
6Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea
7Department of Rehabilitation, Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea

Received 11 August 2014; Accepted 4 November 2014; Published 20 November 2014

Academic Editor: Patrick Morrison

Copyright © 2014 Sun-Mi Cho et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal neuropathy that is commonly caused by a reciprocal 1.5 Mb deletion on chromosome 17p11.2, at the site of the peripheral myelin protein 22 (PMP22) gene. Other patients with similar phenotypes have been shown to harbor point mutations or small deletions, although there is some clinical variation across these patients. In this report, we describe a case of HNPP with copy number changes in exon or promoter regions of PMP22. Multiplex ligation-dependent probe analysis revealed an exon 1b deletion in the patient, who had been diagnosed with HNPP in the first decade of life using molecular analysis.