Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients

Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood...

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Autores principales:	Defelipe, Lucas Alfredo, Turjanski, Adrián Gustavo
Publicado:	2016
Materias:	G6PD deficiency G6PD DNA variants Hemolytic anemia alanine cysteine DNA glucose 6 phosphate dehydrogenase glutamine phenylalanine proline protein serine threonine biological marker amino acid substitution Argentina Article blood biochemistry case report child cholecystectomy chronic nonspherocytic hemolytic anemia female genetic analysis genetic counseling genetic variability glucose 6 phosphate dehydrogenase deficiency hematological procedure hereditary hemolytic anemia human male molecular genetics newborn jaundice phototherapy preschool child priority journal screening test single nucleotide polymorphism blood examination chemistry enzymology erythrocyte genetic variation genetics metabolism pathology polymerase chain reaction prognosis protein conformation Biomarkers Child, Preschool Erythrocytes Female Genetic Variation Glucosephosphate Dehydrogenase Glucosephosphate Dehydrogenase Deficiency Hematologic Tests Humans Male Polymerase Chain Reaction Prognosis Protein Conformation
Acceso en línea:	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00099120_v49_n10-11_p808_Chaves http://hdl.handle.net/20.500.12110/paper_00099120_v49_n10-11_p808_Chaves
Aporte de:	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

id	paper:paper_00099120_v49_n10-11_p808_Chaves
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spelling	paper:paper_00099120_v49_n10-11_p808_Chaves2023-06-08T14:34:10Z Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients Defelipe, Lucas Alfredo Turjanski, Adrián Gustavo G6PD deficiency G6PD DNA variants Hemolytic anemia alanine cysteine DNA glucose 6 phosphate dehydrogenase glutamine phenylalanine proline protein serine threonine biological marker DNA glucose 6 phosphate dehydrogenase amino acid substitution Argentina Article blood biochemistry case report child cholecystectomy chronic nonspherocytic hemolytic anemia female genetic analysis genetic counseling genetic variability glucose 6 phosphate dehydrogenase deficiency hematological procedure hereditary hemolytic anemia human male molecular genetics newborn jaundice phototherapy preschool child priority journal screening test single nucleotide polymorphism blood examination chemistry enzymology erythrocyte genetic variation genetics glucose 6 phosphate dehydrogenase deficiency metabolism pathology polymerase chain reaction prognosis protein conformation Biomarkers Child, Preschool DNA Erythrocytes Female Genetic Variation Glucosephosphate Dehydrogenase Glucosephosphate Dehydrogenase Deficiency Hematologic Tests Humans Male Polymerase Chain Reaction Prognosis Protein Conformation Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an X-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation. Method Probands and their relatives underwent clinical, biochemical, and molecular assessment. Results Two novel DNA variants, c.995C > T and c.1226C > A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling. Conclusions The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed. © 2016 The Canadian Society of Clinical Chemists Fil:Defelipe, L. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. Fil:Turjanski, A. Universidad de Buenos Aires. Facultad de Ciencias Exactas y Naturales; Argentina. 2016 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00099120_v49_n10-11_p808_Chaves http://hdl.handle.net/20.500.12110/paper_00099120_v49_n10-11_p808_Chaves
institution	Universidad de Buenos Aires
institution_str	I-28
repository_str	R-134
collection	Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA)
topic	G6PD deficiency G6PD DNA variants Hemolytic anemia alanine cysteine DNA glucose 6 phosphate dehydrogenase glutamine phenylalanine proline protein serine threonine biological marker DNA glucose 6 phosphate dehydrogenase amino acid substitution Argentina Article blood biochemistry case report child cholecystectomy chronic nonspherocytic hemolytic anemia female genetic analysis genetic counseling genetic variability glucose 6 phosphate dehydrogenase deficiency hematological procedure hereditary hemolytic anemia human male molecular genetics newborn jaundice phototherapy preschool child priority journal screening test single nucleotide polymorphism blood examination chemistry enzymology erythrocyte genetic variation genetics glucose 6 phosphate dehydrogenase deficiency metabolism pathology polymerase chain reaction prognosis protein conformation Biomarkers Child, Preschool DNA Erythrocytes Female Genetic Variation Glucosephosphate Dehydrogenase Glucosephosphate Dehydrogenase Deficiency Hematologic Tests Humans Male Polymerase Chain Reaction Prognosis Protein Conformation
spellingShingle	G6PD deficiency G6PD DNA variants Hemolytic anemia alanine cysteine DNA glucose 6 phosphate dehydrogenase glutamine phenylalanine proline protein serine threonine biological marker DNA glucose 6 phosphate dehydrogenase amino acid substitution Argentina Article blood biochemistry case report child cholecystectomy chronic nonspherocytic hemolytic anemia female genetic analysis genetic counseling genetic variability glucose 6 phosphate dehydrogenase deficiency hematological procedure hereditary hemolytic anemia human male molecular genetics newborn jaundice phototherapy preschool child priority journal screening test single nucleotide polymorphism blood examination chemistry enzymology erythrocyte genetic variation genetics glucose 6 phosphate dehydrogenase deficiency metabolism pathology polymerase chain reaction prognosis protein conformation Biomarkers Child, Preschool DNA Erythrocytes Female Genetic Variation Glucosephosphate Dehydrogenase Glucosephosphate Dehydrogenase Deficiency Hematologic Tests Humans Male Polymerase Chain Reaction Prognosis Protein Conformation Defelipe, Lucas Alfredo Turjanski, Adrián Gustavo Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
topic_facet	G6PD deficiency G6PD DNA variants Hemolytic anemia alanine cysteine DNA glucose 6 phosphate dehydrogenase glutamine phenylalanine proline protein serine threonine biological marker DNA glucose 6 phosphate dehydrogenase amino acid substitution Argentina Article blood biochemistry case report child cholecystectomy chronic nonspherocytic hemolytic anemia female genetic analysis genetic counseling genetic variability glucose 6 phosphate dehydrogenase deficiency hematological procedure hereditary hemolytic anemia human male molecular genetics newborn jaundice phototherapy preschool child priority journal screening test single nucleotide polymorphism blood examination chemistry enzymology erythrocyte genetic variation genetics glucose 6 phosphate dehydrogenase deficiency metabolism pathology polymerase chain reaction prognosis protein conformation Biomarkers Child, Preschool DNA Erythrocytes Female Genetic Variation Glucosephosphate Dehydrogenase Glucosephosphate Dehydrogenase Deficiency Hematologic Tests Humans Male Polymerase Chain Reaction Prognosis Protein Conformation
description	Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an X-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation. Method Probands and their relatives underwent clinical, biochemical, and molecular assessment. Results Two novel DNA variants, c.995C > T and c.1226C > A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling. Conclusions The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed. © 2016 The Canadian Society of Clinical Chemists
author	Defelipe, Lucas Alfredo Turjanski, Adrián Gustavo
author_facet	Defelipe, Lucas Alfredo Turjanski, Adrián Gustavo
author_sort	Defelipe, Lucas Alfredo
title	Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
title_short	Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
title_full	Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
title_fullStr	Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
title_full_unstemmed	Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
title_sort	two novel dna variants associated with glucose-6-phosphate dehydrogenase deficiency found in argentine pediatric patients
publishDate	2016
url	https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00099120_v49_n10-11_p808_Chaves http://hdl.handle.net/20.500.12110/paper_00099120_v49_n10-11_p808_Chaves
work_keys_str_mv	AT defelipelucasalfredo twonoveldnavariantsassociatedwithglucose6phosphatedehydrogenasedeficiencyfoundinargentinepediatricpatients AT turjanskiadriangustavo twonoveldnavariantsassociatedwithglucose6phosphatedehydrogenasedeficiencyfoundinargentinepediatricpatients
_version_	1768544532208549888

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients

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