Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia

Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia Publisher

Darvish H¹ ; Azcona LJ² ; Tafakhori A³ ; Ahmadi M³ ; Ahmadifard A¹ ; Paisanruiz C^{4, 5, 6}

Show Affiliations

1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Neurosciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
3. Department of Neurology, School of Medicine, Imam Khomeini Hospital, Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
4. Departments of Neurology Psychiatry, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
5. Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
6. Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States

Source: npj Genomic Medicine Published:2017

Abstract

Hereditary spastic paraplegias are a rare group of clinically and genetically heterogeneous neurodegenerative diseases, with upper motor neuron degeneration and progressive lower limb spasticity as their main phenotypic features. Despite that 76 distinct loci have been reported and some casual genes identified, most of the underlying causes still remain unidentified. Moreover, a wide range of clinical manifestations is present in most hereditary spastic paraplegias subtypes, adding further complexity to their differential clinical diagnoses. Here, we describe the first exon rearrangement reported in the SPG45/SPG65 (NT5C2) loci in a family featuring a complex hereditary spastic paraplegias phenotype. This study expands both the phenotypic and mutational spectra of the NT5C2-associated disease. © 2017 The Author(s).

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Style	Citing Format
MLA	Darvish H, et al.. "Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia." npj Genomic Medicine, vol. 2, no. 1, 2017, pp. -.
APA	Darvish H, Azcona LJ, Tafakhori A, Ahmadi M, Ahmadifard A, Paisanruiz C (2017). Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia. npj Genomic Medicine, 2(1), -.
Chicago	Darvish H, Azcona LJ, Tafakhori A, Ahmadi M, Ahmadifard A, Paisanruiz C. "Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia." npj Genomic Medicine 2, no. 1 (2017): -.
Harvard	Darvish H et al. (2017) 'Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia', npj Genomic Medicine, 2(1), pp. -.
Vancouver	Darvish H, Azcona LJ, Tafakhori A, Ahmadi M, Ahmadifard A, Paisanruiz C. Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia. npj Genomic Medicine. 2017;2(1):-.
BibTex	@article{ author = {Darvish H and Azcona LJ and Tafakhori A and Ahmadi M and Ahmadifard A and Paisanruiz C}, title = {Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia}, journal = {npj Genomic Medicine}, volume = {2}, number = {1}, pages = {-}, year = {2017} }
RIS	TY - JOUR AU - Darvish H AU - Azcona LJ AU - Tafakhori A AU - Ahmadi M AU - Ahmadifard A AU - Paisanruiz C TI - Whole Genome Sequencing Identifies a Novel Homozygous Exon Deletion in the Nt5c2 Gene in a Family With Intellectual Disability and Spastic Paraplegia JO - npj Genomic Medicine VL - 2 IS - 1 SP - EP - PY - 2017 ER -

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