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

Authors
 Sun-Mi Cho  ;  Bo Young Hong  ;  Yoonjung Kim  ;  Sang Guk Lee  ;  Jin-Young Yang  ;  Juwon Kim  ;  Kyung-A Lee 
Citation
 Case Reports in Genetics, Vol.2014 : 946010, 2014 
Journal Title
 Case Reports in Genetics 
ISSN
 2090-6552 
Issue Date
2014
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.
Files in This Item:
T201405877.pdf Download
DOI
10.1155/2014/946010
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Lee, Sang-Guk(이상국) ORCID logo https://orcid.org/0000-0003-3862-3660
Cho, Sun Mi(조선미)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/138981
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