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

doi:10.1002/ajmg.a.38414

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

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

13 Scopus citations

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 language	English
Pages (from-to)	3109-3113
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	173
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.38414
State	Published - Nov 2017

Keywords

NT5C2
SPG45
exome sequencing
hereditary spastic paraplegias

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title = "Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45",

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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author = "Rachel Straussberg and Alexandros Onoufriadis and Osnat Konen and Yasmin Zouabi and Lior Cohen and Lee, {John Y.W.} and Hsu, {Chao Kai} and Simpson, {Michael A.} and McGrath, {John A.}",

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AU - Straussberg, Rachel

AU - Onoufriadis, Alexandros

AU - Konen, Osnat

AU - Zouabi, Yasmin

AU - Cohen, Lior

AU - Lee, John Y.W.

AU - Hsu, Chao Kai

AU - Simpson, Michael A.

AU - McGrath, John A.

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AB - 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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Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

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