A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family

Lucca, Marisel De; Barba, Carmen; Casique, Liliana

doi:10.1016/j.cca.2017.04.021

Cited by 3 publications

(3 citation statements)

References 20 publications

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“…Variants possibly affecting proper splicing in GALT have been reported previously. [21][22][23][24] It is interesting to note that two other variants in the same intron as ours have been reported: (1) the c.1059+56C>T variant causing activation of a cryptic splice site results in a 54 bp insertion. 25 ; (2) the variant c.1059+36T>A was reported as not interfering with splicing.…”

Section: Discussionmentioning

confidence: 75%

A founder noncoding GALT variant interfering with splicing causes galactosemia

Latchman

Brown

Sineni

et al. 2020

J of Inher Metab Disea

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Section: Discussionmentioning

confidence: 75%

A founder noncoding GALT variant interfering with splicing causes galactosemia

Latchman

Brown

Sineni

et al. 2020

J of Inher Metab Disea

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“…Classic Galactosemia (CG) is a rare autosomal recessive disorder of galactose metabolism. It caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene located on chromosome 9p13.3 and has a total length of 4.3kb ( 7 ). GALT consists of 11 exons and encodes 379 amino acids expressed highly in liver, red blood cells (RBCs), and other tissues of the body.…”

Section: Discussionmentioning

confidence: 99%

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

Sun

et al. 2020

Front. Pediatr.

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Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase ( GALT ) gene. This study aim to identify pathogenic mutations underlying classic galactosemia in two Chinese families. Methods: We collected blood samples from two Chinese families and extracted genomic DNA. High-throughput sequencing, sanger sequencing, and bioinformatics analysis were used to investigate the molecular cause of manifestations in the two Chinese families. Results: We found compound heterozygous mutations (c.396C>G; p.His132Gln and c.974C>T; p.Pro325Leu) in family 1 and a homozygous missense variant (c.974C>T; p.Pro325Leu) in family 2. Bioinformatics and Sanger sequencing were performed to verify the identified variants. Conclusion: The present study identified the GALT mutations as a genetic etiology in the two Chinese families with classic galactosemia and expanded the phenotypic and mutational spectrum of GALT . Our findings could be useful in providing evidence for prenatal interventions and more precise pharmacological treatments to patients. High-throughput sequencing conducted in our study is a convenient and useful tool for clinical diagnosis of galactosemia and other associated genetic disorders.

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“…PKU affects PAH gene expression, leading to impaired Phe metabolism and its conversion to tyrosine. Consequently, Phe accumulates in the plasma, causing detrimental effects on various systems, including the nervous system (resulting in symptoms such as myoclonus, severe mental status changes, and seizures), skin (causing hypopigmentation), and urine compounds [6][7][8][9][10][11].…”

Section: Definitions and Epidemiologymentioning

confidence: 99%

Recent Advances in Phenylketonuria: A Review

Zuñiga Vinueza

2023

Cureus

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This article highlights the significance of inborn errors of metabolism and focuses specifically on phenylketonuria (PKU), a well-known inheritance disorder caused by the deficiency or absence of phenylalanine hydroxylase (PAH). This review discusses associated mutations in the PAH gene and their impact on phenylalanine metabolism. A total of 40 articles were analyzed between 2019 and 2023, covering diagnostic innovations, advancements in treatment and management strategies, and the long-term implications of PKU. This study emphasizes the importance of early diagnosis and highlights the ongoing need for advancements in screening methods and treatment approaches to optimize patient outcomes in PKU patients. This review provides valuable insights for healthcare professionals involved in the care of children with PKU and contributes to the enhancement of clinical practice in this field.

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A novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family

Cited by 3 publications

References 20 publications

A founder noncoding GALT variant interfering with splicing causes galactosemia

A founder noncoding GALT variant interfering with splicing causes galactosemia

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

Recent Advances in Phenylketonuria: A Review

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