Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features

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Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features Publisher Pubmed

Hosseini Bereshneh A^{1, 2, 3} ; Rezaei Z⁴ ; Jafarinia E¹ ; Rajabi F¹ ; Ashrafi MR⁴ ; Tavasoli AR⁴ ; Garshasbi M¹

Show Affiliations

1. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
2. Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran
3. Prenatal Diagnosis and Genetic Research Center, Dastgheib Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
4. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

Source: Mitochondrion Published:2021

Abstract

Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1 (PNPT1) is one of the genes involved in the OXPHOS and encodes the mitochondrial polynucleotide phosphorylase (PNPase) which is implicated in RNA-processing exoribonuclease activity. Herein, we report a 34-month-old boy who presented with global developmental delay, muscular hypotonia, hearing impairment, and movement disorders including chorea and dystonia. Mitochondrial genome sequencing and whole-exome sequencing (WES) were performed and a variant in PNPT1:c.1453A>G; p. (Met485Val) was identified. A number of patient's neurologic problems had been already reported in previous studies, however, lower limbs spasticity and bulbar dysfunction were novel phenotypic findings. In addition, delayed myelination during infancy, progressive basal ganglia atrophy, and brain stem abnormal signals including transverse pontine fibers and superior colliculus involvement were also novel neuroimaging findings in this case. Different crystallographic modeling and stereochemical analysis of the c.1453A>G; p. (Met485Val) variant showed this variant affects the active site of the protein and disrupts the normal protein function. © 2021 Elsevier B.V. and Mitochondria Research Society

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Style	Citing Format
MLA	Hosseini Bereshneh A, et al.. "Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features." Mitochondrion, vol. 59, no. , 2021, pp. 1-7.
APA	Hosseini Bereshneh A, Rezaei Z, Jafarinia E, Rajabi F, Ashrafi MR, Tavasoli AR, Garshasbi M (2021). Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features. Mitochondrion, 59(), 1-7.
Chicago	Hosseini Bereshneh A, Rezaei Z, Jafarinia E, Rajabi F, Ashrafi MR, Tavasoli AR, Garshasbi M. "Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features." Mitochondrion 59, no. (2021): 1-7.
Harvard	Hosseini Bereshneh A et al. (2021) 'Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features', Mitochondrion, 59(), pp. 1-7.
Vancouver	Hosseini Bereshneh A, Rezaei Z, Jafarinia E, Rajabi F, Ashrafi MR, Tavasoli AR, et al.. Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features. Mitochondrion. 2021;59():1-7.
BibTex	@article{ author = {Hosseini Bereshneh A and Rezaei Z and Jafarinia E and Rajabi F and Ashrafi MR and Tavasoli AR and Garshasbi M}, title = {Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features}, journal = {Mitochondrion}, volume = {59}, number = {}, pages = {1-7}, year = {2021} }
RIS	TY - JOUR AU - Hosseini Bereshneh A AU - Rezaei Z AU - Jafarinia E AU - Rajabi F AU - Ashrafi MR AU - Tavasoli AR AU - Garshasbi M TI - Crystallographic Modeling of the Pnpt1:C.1453A>G Variant As a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features JO - Mitochondrion VL - 59 IS - SP - 1 EP - 7 PY - 2021 ER -

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