Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Rachel Straussberg, Alexandros Onoufriadis, Osnat Konen, Yasmin Zouabi, Lior Cohen, John Y.W. Lee, Chao Kai Hsu, Michael A. Simpson, John A. McGrath

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

SPG45 is a rare form of autosomal recessive spastic paraplegia associated with mental retardation. Detailed phenotyping and mutation analysis was undertaken in three individuals with SPG45 from a consanguineous family of Arab Muslim origin. Using whole-exome sequencing, we identified a novel homozygous missense mutation in NT5C2 (c.1379T>C; p.Leu460Pro). Our data expand the molecular basis of SPG45, adding the first missense mutation to the current database of nonsense, frameshift, and splice site mutations. NT5C2 mutations seem to have a broad clinical spectrum and should be sought in patients manifesting either as uncomplicated or complicated HSP.

Original languageEnglish
Pages (from-to)3109-3113
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume173
Issue number11
DOIs
Publication statusPublished - 2017 Nov

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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