Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies
Joint Authors
Kim, Juwon
Cho, Sun-Mi
Hong, Bo Young
Kim, Yoonjung
Lee, Sang Guk
Yang, Jin-Young
Lee, Kyung-A
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-11-20
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Cho, Sun-Mi& Hong, Bo Young& Kim, Yoonjung& Lee, Sang Guk& Yang, Jin-Young& Kim, Juwon…[et al.]. 2014. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. Case Reports in Genetics،Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-1017046
Modern Language Association (MLA)
Cho, Sun-Mi…[et al.]. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. Case Reports in Genetics No. 2014 (2014), pp.1-3.
https://search.emarefa.net/detail/BIM-1017046
American Medical Association (AMA)
Cho, Sun-Mi& Hong, Bo Young& Kim, Yoonjung& Lee, Sang Guk& Yang, Jin-Young& Kim, Juwon…[et al.]. Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies. Case Reports in Genetics. 2014. Vol. 2014, no. 2014, pp.1-3.
https://search.emarefa.net/detail/BIM-1017046
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1017046