A Family Harboring CMT1A Duplication and HNPP Deletion

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p...

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Detalles Bibliográficos
Autores principales: Lee, Jung Hwa, Kang, Hee Jin, Song, Hyunseok, Hwang, Su Jin, Cho, Sun-Young, Kim, Sang-Beom, Kim, Joonki, Chung, Ki Wha, Choi, Byung-Ok
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2007
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686856/
https://www.ncbi.nlm.nih.gov/pubmed/19513300
http://dx.doi.org/10.3988/jcn.2007.3.2.101
Descripción
Sumario:Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.

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