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Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

Research output: Contribution to journalArticle

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

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Early online date8 Sep 2017
DOIs
Publication statusE-pub ahead of print - 8 Sep 2017

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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.

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