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

被引：1

作者：

Tendi, Elisabetta Anna ^{[1
]}

Morello, Giovanna ^{[1
]}

Guarnaccia, Maria ^{[1
]}

La Cognata, Valentina ^{[1
]}

Petralia, Salvatore ^{[2
]}

Messina, Maria Anna ^{[3
]}

Meli, Concetta ^{[3
]}

Fiumara, Agata ^{[3
]}

Ruggieri, Martino ^{[4
]}

Cavallaro, Sebastiano ^{[1
]}

机构：

[1] CNR, Inst Biomed Res & Innovat, Biomed Sci Dept, Via Paolo Gaifami 18, I-95026 Catania, Italy

[2] Univ Catania, Dept Drug & Hlth Sci, I-95125 Catania, Italy

[3] Univ Hosp Policlin Rodol San Marco, Reg Reference Ctr Treatment & Control Congenital M, Dept Clin & Expt Med, I-95123 Catania, Italy

[4] Univ Hosp Policlin Rodol San Marco, Dept Clin & Expt Med, Unit Rare Dis Nervous Syst Childhood, Sect Pediat & Child Neuropsychiat, I-95123 Catania, Italy

来源：

BIOMEDICINES | 2023年 / 11卷 / 07期

关键词：

hyperphenylalaninemia (HPA); newborn screening (NBS); diagnosis; targeted next-generation sequencing (tNGS); PHENYLALANINE-HYDROXYLASE DEFICIENCY; SEPIAPTERIN REDUCTASE; MOLECULAR-GENETICS; MISSENSE MUTATIONS; TETRAHYDROBIOPTERIN; PHENYLKETONURIA; EPIDEMIOLOGY; LANDSCAPE; DIAGNOSIS; GENOTYPES;

D O I：

10.3390/biomedicines11071899

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页数：14

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