title: Partial Gene Deletions of PMP22 Causing Hereditary Neuropathy with Liability to Pressure Palsies.
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.
authors.affiliation: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea.
authors.forename: Sun-Mi
authors.initials: SM
authors.lastname: Cho
authors.affiliation: Department 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.
authors.forename: Bo Young
authors.identifier: 0000-0001-9290-6173
authors.initials: BY
authors.lastname: Hong
authors.affiliation: Samkwang Medical Laboratories, 9-60 Yangjae-dong, Seocho-gu, Seoul 137-887, Republic of Korea.
authors.forename: Yoonjung
authors.initials: Y
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Republic of Korea.
authors.forename: Sang Guk
authors.initials: SG
authors.lastname: Lee
authors.affiliation: Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, 62 Yeouido-dong, Yeongdeungpo-gu, Seoul 150-713, Republic of Korea.
authors.forename: Jin-Young
authors.initials: JY
authors.lastname: Yang
authors.affiliation: Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, 20 Ilsan-ro, Ilsandong, Wonju, Gangwon-do 220-701, Republic of Korea.
authors.forename: Juwon
authors.identifier: 0000-0003-2010-4491
authors.initials: J
authors.lastname: Kim
authors.affiliation: Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea ; Department of Rehabilitation, Institute of Neuromuscular Disease, Gangnam Severance Hospital, Yonsei University College of Medicine, 712 Eonjuro, Gangnam-gu, Seoul 135-720, Republic of Korea.
authors.forename: Kyung-A
authors.identifier: 0000-0001-5320-6705
authors.initials: KA
authors.lastname: Lee