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

@inproceedings{Bettencourt2017GenotypephenotypeCA,
  title={Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia},
  author={Conceiç{\~a}o Bettencourt and Vincenzo Salpietro and Stephanie Efthymiou and Viorica Chelban and D I Hughes and Alan M. Pittman and Monica Federoff and Thomas Bourinaris and Martha G. Spilioti and Georgia Deretzi and Triantafyllia Kalantzakou and Henry Houlden and Andrew Singleton and Georgia Xiromerisiou},
  booktitle={Orphanet journal of rare diseases},
  year={2017}
}
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, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant… CONTINUE READING
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