Homozygosity for a novel large deletion in <i>SLC29A3</i> in a patient with H syndrome

Shankar, Sukesh Gautam; Sudha, R; Priyadarshini, Anuradha; Swaminathan, Adikrishnan; Sundaram, Murugan

doi:10.1111/pde.14075

Cited by 3 publications

(4 citation statements)

References 12 publications

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“…These findings are supported by various fibrosing conditions showing under-expression of ENT, including ENT1 in epithelial to mesenchymal transition with resultant fibrosis in kidneys (14); ENT3 in H syndrome, a form of sclerodermoid condition associated with sclerosis of skin (15); under-expressions of ENT in idiopathic lung fibrosis (16); atherosclerosis (17); and purinergic signalling to renal fibrosis in experimental diabetic nephropathy (18).…”

Section: Discussionmentioning

confidence: 89%

Association of Equiliberative Nucleoside Transporter (ENT) with liver fibrosis stage in Hepatitis-C

Bhatti¹,

Syed²,

Ujjan³

2022

J Pak Med Assoc

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Objective: To evaluate the pattern of equiliberative nucleoside transporters in viral hepatitis responding and non-responding patients, to correlate the liver fibrosis stage with the pattern among the non-responders, and to correlate the equiliberative nucleoside transporter status with housekeeping hypoxanthine-guanine phosphoribosyltransferase gene. Method: The comparative cross-sectional study was conducted at the Molecular Biology and Genetics Department, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan, from March to August 2018, and comprised adult hepatitis C virus patients of either gender who completed six months of treatment. They were assessed for response to therapy in terms of the presence of the viral load in their serum by using real time polymerase chain reaction, and divided into responder group A and non-responder group B. The groups were compared and correlation between equiliberative nucleoside transporter expressions and liver fibrosis was evaluated. Data was analysed using SPSS 23. Results: Of the 80 patients, 33(41.3%) were males and 47(58.8%) were females. The overall mean age was 37.46±10.61 years. In terms of response to treatment, there were 40(50%) in each of the two groups. Mean post-treatment duration was 15.38±30.09 weeks. Age was not significantly different with respect to gender (p>0.05), but the age pattern was significantly different between the two groups (p<0.001). Also, non-responders had significant post-treatment duration compared to the responders (p<0.001). Hypoxanthine-guanine phosphoribosyltransferase gene showed no significant difference between the groups (p=0.144). ---Continue

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Section: Discussionmentioning

confidence: 89%

Association of Equiliberative Nucleoside Transporter (ENT) with liver fibrosis stage in Hepatitis-C

Bhatti¹,

Syed²,

Ujjan³

2022

J Pak Med Assoc

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“…No correlation between the phenotype and genotype was found 1 . Of the four Indian cases reported with mutational analysis, three showed R134C (c.400C>T) mutation 2,4,5 . All four patients presented with hyperpigmented plaques, diabetes mellitus, SNHL, and anemia and were stunted and wasted 2,4,5 .…”

Section: Figurementioning

confidence: 90%

“…Of the four Indian cases reported with mutational analysis, three showed R134C (c.400C>T) mutation 2,4,5 . All four patients presented with hyperpigmented plaques, diabetes mellitus, SNHL, and anemia and were stunted and wasted 2,4,5 . The teenage girl had primary amenorrhea and lack of secondary sexual characters, while the boy had low testosterone levels 4,5 .…”

Section: Figurementioning

confidence: 94%

“…All four patients presented with hyperpigmented plaques, diabetes mellitus, SNHL, and anemia and were stunted and wasted 2,4,5 . The teenage girl had primary amenorrhea and lack of secondary sexual characters, while the boy had low testosterone levels 4,5 . Mutations in the SLC29A3 are also believed to affect the insulin signaling pathway and cause hyperglycemia 4 .…”

Section: Figurementioning

confidence: 99%

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H syndrome caused by a novel P324S mutation in SLC29A3 gene

et al. 2022

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were born prematurely were more likely to have a lower weight than those that were full term. No significant difference was observed for the other factors, such as gender, age at treatment start, and the duration of propranolol treatment.Our study showed that oral propranolol at a dose of 2.0 mg/ kg/day affected weight development in pediatric patients with IHs during treatment; however, the influence disappeared by 2 years after the cessation of treatment. These results do not conflict with a previous study. 5 Weight development varied among the three measurement time points, and we hypothesize that this was, in large part, due to the occasional occurrence of slight propranolol-induced diarrhea, which may have resulted in poor nutritional status. However, the influence of propranolol was temporary. With its cessation, children's nutritional status likely returned to normal, and physical growth also returned to normal. Our data revealed that infants were more likely to be underweight at the end of treatment if they were born prematurely. We hypothesize that the reduced absorption of nutrients caused by propranolol treatment and their premature birth accounts for propranolol's negative influence on their physical development. Thus, parents should be instructed to ensure that their child is fed regularly, especially if premature, to prevent prolonged malnutrition during treatment.The results of this study are limited by its retrospective nature and the lack of a comparative control group. Additionally, this study had a small sample size and a high amount of patient variability. Larger and longer term prospective studies should be performed to fully determine the influence of propranolol on patients' physical development.

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A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review

Rezaie,

Mansour Samaei,

Ghorbani

et al. 2024

BMC Med Genomics

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Background The SLC29A3 gene, which encodes a nucleoside transporter protein, is primarily located in intracellular membranes. The mutations in this gene can give rise to various clinical manifestations, including H syndrome, dysosteosclerosis, Faisalabad histiocytosis, and pigmented hypertrichosis with insulin-dependent diabetes. The aim of this study is to present two Iranian patients with H syndrome and to describe a novel start-loss mutation in SLC29A3 gene. Methods In this study, we employed whole-exome sequencing (WES) as a method to identify genetic variations that contribute to the development of H syndrome in a 16-year-old girl and her 8-year-old brother. These siblings were part of an Iranian family with consanguineous parents. To confirmed the pathogenicity of the identified variant, we utilized in-silico tools and cross-referenced various databases to confirm its novelty. Additionally, we conducted a co-segregation study and verified the presence of the variant in the parents of the affected patients through Sanger sequencing. Results In our study, we identified a novel start-loss mutation (c.2T > A, p.Met1Lys) in the SLC29A3 gene, which was found in both of two patients. Co-segregation analysis using Sanger sequencing confirmed that this variant was inherited from the parents. To evaluate the potential pathogenicity and novelty of this mutation, we consulted various databases. Additionally, we employed bioinformatics tools to predict the three-dimensional structure of the mutant SLC29A3 protein. These analyses were conducted with the aim of providing valuable insights into the functional implications of the identified mutation on the structure and function of the SLC29A3 protein. Conclusion Our study contributes to the expanding body of evidence supporting the association between mutations in the SLC29A3 gene and H syndrome. The molecular analysis of diseases related to SLC29A3 is crucial in understanding the range of variability and raising awareness of H syndrome, with the ultimate goal of facilitating early diagnosis and appropriate treatment. The discovery of this novel biallelic variant in the probands further underscores the significance of utilizing genetic testing approaches, such as WES, as dependable diagnostic tools for individuals with this particular condition.

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Homozygosity for a novel large deletion in SLC29A3 in a patient with H syndrome

Cited by 3 publications

References 12 publications

Association of Equiliberative Nucleoside Transporter (ENT) with liver fibrosis stage in Hepatitis-C

Association of Equiliberative Nucleoside Transporter (ENT) with liver fibrosis stage in Hepatitis-C

H syndrome caused by a novel P324S mutation in SLC29A3 gene

A novel start-loss mutation of the SLC29A3 gene in a consanguineous family with H syndrome: clinical characteristics, in silico analysis and literature review

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