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Article

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

American journal of medical genetics. Part A - 1 Nov 2017

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

Abstract excerpt

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...

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PMID: 28884889
DOI: 10.1002/ajmg.a.38414

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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