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

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

15 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 - 1 Nov 2017
Externally published	Yes

Keywords

NT5C2
SPG45
exome sequencing
hereditary spastic paraplegias

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.38414

Cite this

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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.",

keywords = "NT5C2, SPG45, exome sequencing, hereditary spastic paraplegias",

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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year = "2017",

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doi = "10.1002/ajmg.a.38414",

language = "English",

volume = "173",

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journal = "American Journal of Medical Genetics, Part A",

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TY - JOUR

T1 - Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

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.

PY - 2017/11/1

Y1 - 2017/11/1

N2 - 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.

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.

KW - NT5C2

KW - SPG45

KW - exome sequencing

KW - hereditary spastic paraplegias

UR - https://www.scopus.com/pages/publications/85029064385

U2 - 10.1002/ajmg.a.38414

DO - 10.1002/ajmg.a.38414

M3 - Article

C2 - 28884889

AN - SCOPUS:85029064385

SN - 1552-4825

VL - 173

SP - 3109

EP - 3113

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

Abstract

Keywords

ASJC Scopus subject areas

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