Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a

Karthi, Sellamuthu; Manimaran, Paramasivam; Varalakshmi, Perumal; Ganesh, Ramaswamy; Kapoor, Seema; Goyal, Manisha; Ashokkumar, Balasubramaniem

doi:10.1016/j.gene.2019.03.029

Cited by 3 publications

(7 citation statements)

References 30 publications

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“…The patient in this study presented hypoglycemia, hyperlactatemia, hepatomegaly, and hypertriglyceridemia ketonuria; biochemical indices were abnormal. Other studies in Chinese and Indian patients with GSD Ia showed similar symptoms (Gu et al, 2014;Zheng et al, 2015;Karthi et al, 2019). This suggests that patients presented with severe hypoglycemia can be clearly diagnosed in early childhood.…”

Section: Bioinformaticsmentioning

confidence: 56%

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Identification of p.His119Leu mutation in the<i> G6PC</i> gene of a Vietnamese patient with glycogen storage disease type Ia

Hoàng¹,

Dũng²,

Tung³

et al. 2020

AJB

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Glycogen storage disease type Ia (GSD Ia), a rare autosomal inherited disorder, is characterized by accumulation of excessive glycogen and fat in the liver. Primary symptoms of GSD Ia include hypoglycemia; metabolic acidosis; elevated levels of lactate, uric acid and lipids; hepatomagaly and growth retardation. Glycogen storage disease type Ia was caused by mutations in the G6PC gene. In this study, mutations in a Vietnamese patient with glycogen storage disease type Ia were analyzed using the whole exome sequencing method. A missense mutation c.356A>T (p.His119Leu) in the G6PC gene of the patient was identified in exon 3. Genetic analysis confirmed that this mutation was present under homozygous form In-silico analyses using SIFT and Mutation Taster confirmed the damaging effects of this mutations on the function of the proteins. This result enriches knowledge of the G6PC gene mutation spectrum and provides genetic data for further studies on glycogen storage disease type Ia in Viet Nam.

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Section: Bioinformaticsmentioning

confidence: 56%

“…2002). Patients with GSD Ia present many abnormal biochemical symptoms, mainly fasting hypoglycemia, lactic acidosis, hyperlipidemia, hyperuricemia, hepatomegaly, and growth retardation (Gu et al 2014;Karthi et al 2019).…”

Section: Introductionmentioning

confidence: 99%

Identification of p.His119Leu mutation in the<i> G6PC</i> gene of a Vietnamese patient with glycogen storage disease type Ia

Hoàng¹,

Dũng²,

Tung³

et al. 2020

AJB

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“…GSDI is further divided into Ia, Ib, Ic and Id with GSDIa accounting for about 80% of all GSDI cases and resulting from pathogenic variants in the G6PC1 gene [ 3 ]. The remaining 20% includes Ib, Ic and Id, all of which harbour pathogenic variations in the SLC37A4 gene [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

“…GSDIa (OMIM 232200) is caused by deficiency of G6Pase-α which inhibits conversion of G6P to free glucose and phosphate [ 4 ]. This enzyme is expressed in the liver, kidney, and intestinal mucosal cells.…”

Section: Introductionmentioning

confidence: 99%

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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

et al. 2022

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Glycogen storage disorders occur due to enzyme deficiencies in the glycogenolysis and gluconeogenesis pathway, encoded by 26 genes. GSD’s present with overlapping phenotypes with variable severity. In this series, 57 individuals were molecularly confirmed for 7 GSD subtypes and their demographic data, clinical profiles and genotype-phenotype co-relations are studied. Genomic DNA from venous blood samples was isolated from clinically affected individuals. Targeted gene panel sequencing covering 23 genes and Sanger sequencing were employed. Various bioinformatic tools were used to predict pathogenicity for new variations. Close parental consanguinity was seen in 76%. Forty-nine pathogenic variations were detected of which 27 were novel. Variations were spread across GSDIa, Ib, III, VI, IXa, b and c. The largest subgroup was GSDIII in 28 individuals with 24 variations (12 novel) in AGL. The 1620+1G>C intronic variation was observed in 5 with GSDVI (PYGL). A total of eleven GSDIX are described with the first Indian report of type IXb. This is the largest study of GSDs from India. High levels of consanguinity in the local population and employment of targeted sequencing panels accounted for the range of GSDs reported here.

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Genetic-Based Approaches to Inherited Metabolic Liver Diseases

et al. 2019

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Mutational spectrum and identification of five novel mutations in G6PC1 gene from a cohort of Glycogen Storage Disease Type 1a

Cited by 3 publications

References 30 publications

Identification of p.His119Leu mutation in the<i> G6PC</i> gene of a Vietnamese patient with glycogen storage disease type Ia

Identification of p.His119Leu mutation in the<i> G6PC</i> gene of a Vietnamese patient with glycogen storage disease type Ia

Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders

Genetic-Based Approaches to Inherited Metabolic Liver Diseases

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