Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

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.

Source: American Journal of Medical Genetics Part A - September 8, 2017 Category: Genetics & Stem Cells Authors: Rachel Straussberg, Alexandros Onoufriadis, Osnat Konen, Yasmin Zouabi, Lior Cohen, John Y.W. Lee, Chao ‐Kai Hsu, Michael A. Simpson, John A. McGrath Tags: CLINICAL REPORT Source Type: research