Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing-Reference-Cited by-同舟云学术

Detection of Single-Nucleotide and Copy Number Defects Underlying Hyperphenylalaninemia by Next-Generation Sequencing

Published:2023-07-04 Issue:7 Volume:11 Page:1899
ISSN:2227-9059
Container-title:Biomedicines
language:en
Short-container-title:Biomedicines

Author:

Tendi Elisabetta Anna¹,Morello Giovanna¹,Guarnaccia Maria¹,La Cognata Valentina¹,Petralia Salvatore²^ORCID,Messina Maria Anna³,Meli Concetta³,Fiumara Agata³,Ruggieri Martino⁴,Cavallaro Sebastiano¹^ORCID

Affiliation:

1. Biomedical Sciences Department, Institute for Biomedical Research and Innovation, National Research Council, Via Paolo Gaifami 18, 95026 Catania, Italy

2. Department of Drug and Health Sciences, University of Catania, 95125 Catania, Italy

3. Regional Reference Center for the Treatment and Control of Congenital Metabolic Diseases of Childhood, Department of Clinical and Experimental Medicine, University Hospital Policlinico “Rodolico-San Marco”, 95123 Catania, Italy

4. Unit of Rare Diseases of the Nervous System in Childhood, Section of Pediatrics and Child Neuropsychiatry, Department of Clinical and Experimental Medicine, University Hospital Policlinico “Rodolico-San Marco”, 95123 Catania, Italy

Abstract

Hyperphenylalaninemia (HPA) is the most common inherited amino acid metabolism disorder characterized by serious clinical manifestations, including irreversible brain damage, intellectual deficiency and epilepsy. Due to its extensive genic and allelic heterogeneity, next-generation sequencing (NGS) technology may help to identify the molecular basis of this genetic disease. Herein, we describe the development and validation of a targeted NGS (tNGS) approach for the simultaneous detection of single-nucleotide changes and copy number variations (CNVs) in genes associated with HPA (PAH, GCH1, PTS, QDPR, PCBD1, DNAJC12) or useful for its differential diagnosis (SPR). Our tNGS approach offers the possibility to detail, with a high accuracy and in a single workflow, the combined effect of a broader spectrum of genomic variants in a comprehensive view, providing a significant step forward in the development of optimized patient care and management.

Publisher

MDPI AG

Subject

General Biochemistry, Genetics and Molecular Biology,Medicine (miscellaneous)

Link

https://www.mdpi.com/2227-9059/11/7/1899/pdf

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