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Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45

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Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45. / Straussberg, Rachel ; Onoufriadis, Alexandros; Konen, Osnat; Zouabi, Yasmin; Cohen, Lior; Lee, John Y W; Hsu, Chao-Kai; Simpson, Michael A.; McGrath, John A.

In: American Journal of Medical Genetics. Part A, 08.09.2017.

Research output: Contribution to journalArticle

Harvard

Straussberg, R, Onoufriadis, A, Konen, O, Zouabi, Y, Cohen, L, Lee, JYW, Hsu, C-K, Simpson, MA & McGrath, JA 2017, 'Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45', American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.38414

APA

Straussberg, R., Onoufriadis, A., Konen, O., Zouabi, Y., Cohen, L., Lee, J. Y. W., ... McGrath, J. A. (2017). Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45. American Journal of Medical Genetics. Part A. https://doi.org/10.1002/ajmg.a.38414

Vancouver

Straussberg R, Onoufriadis A, Konen O, Zouabi Y, Cohen L, Lee JYW et al. Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45. American Journal of Medical Genetics. Part A. 2017 Sep 8. https://doi.org/10.1002/ajmg.a.38414

Author

Straussberg, Rachel ; Onoufriadis, Alexandros ; Konen, Osnat ; Zouabi, Yasmin ; Cohen, Lior ; Lee, John Y W ; Hsu, Chao-Kai ; Simpson, Michael A. ; McGrath, John A. / Novel homozygous missense mutation in NT5C2 underlying Hereditary Spastic Paraplegia SPG45. In: American Journal of Medical Genetics. Part A. 2017.

Bibtex Download

@article{fdb90179f79f47a5b88629f754ebb888,
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.",
author = "Rachel Straussberg and Alexandros Onoufriadis and Osnat Konen and Yasmin Zouabi and Lior Cohen and Lee, {John Y W} and Chao-Kai Hsu and Simpson, {Michael A.} and McGrath, {John A.}",
year = "2017",
month = "9",
day = "8",
doi = "10.1002/ajmg.a.38414",
language = "English",
journal = "American Journal of Medical Genetics. Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",

}

RIS (suitable for import to EndNote) Download

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 - 2017/9/8

Y1 - 2017/9/8

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.

U2 - 10.1002/ajmg.a.38414

DO - 10.1002/ajmg.a.38414

M3 - Article

JO - American Journal of Medical Genetics. Part A

JF - American Journal of Medical Genetics. Part A

SN - 1552-4825

ER -

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