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

研究成果: Article同行評審

8 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)3109-3113
頁數5
期刊American Journal of Medical Genetics, Part A
173
發行號11
DOIs
出版狀態Published - 2017 十一月

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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