Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene-Reference-Cited by-同舟云学术

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Expanding the Clinical and Molecular Spectrum of HARS2-Perrault Syndrome: Identification of a Novel Homozygous Missense Variant in the HARS2 gene

Published:2021-08-01 Issue:8 Volume:25 Page:528-539
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Souissi Amal¹,Ben Said Mariem¹^ORCID,Frikha Fakher²,Elloumi Ines¹,Masmoudi Saber¹,Megarbane Andre³

Affiliation:

1. Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, University of Sfax, Sfax, Tunisia.

2. Faculty of Sciences of Sfax, University of Sfax, Sfax, Tunisia.

3. Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2021.0092

Reference16 articles.

1. Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3

2. Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc

3. Expanding the genotypic spectrum of Perrault syndrome

4. A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families

5. Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

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1. Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases;Genes;2024-07-19

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3. The Canonical and Noncanonical Functions of Aminoacyl-tRNA Synthetases;PROG BIOCHEM BIOPHYS;2023

4. The Bacterial ClpXP-ClpB Family Is Enriched with RNA-Binding Protein Complexes;Cells;2022-08-02

5. Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys;Molecular Genetics & Genomic Medicine;2022-01-08

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