Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (WES). Results A novel AP4M1A frameshift insertion,...

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Bibliographic Details
Main Authors: Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M. Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B. Singleton, Georgia Xiromerisiou
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Whole exome sequencing
AP4 complex
Epilepsy
Hereditary spastic paraplegia
Cerebellar hypoplasia
Online Access:http://link.springer.com/article/10.1186/s13023-017-0721-2

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http://link.springer.com/article/10.1186/s13023-017-0721-2

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