Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder

Besci, Özge; Patel, Kashyap; Yıldız, Gizem; Tüfekçi, Özlem; Acınıklı, Kübra Yüksek; Abacı, Ayhan; Böber, Ece; Bayram, Meral Torun; Yılmaz, Şebnem; Demir, Korcan

doi:10.1007/s42000-022-00352-3

Cited by 4 publications

(2 citation statements)

References 27 publications

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“…1 Patients commonly with hepatosplenomegaly, heart anomalies, growth retardation, hyperglycemia, hemolytic anemia and hypogonadism. [2][3][4] The etiology of this disease is attributed to mutations within the SLC29A3 gene, encoding the human equilibrative nucleoside transporter 3 (hENT3), located on chromosome 10q22, either in a homozygous or compound heterozygous form. 5 These mutations likely impact nucleoside pools in the membranes of mitochondria and lysosomes, disrupting the homeostatic functions of these organelles, which are dependent on hENT3 substrates.…”

Section: Introductionmentioning

confidence: 99%

“…The H syndrome, an autosomal recessive disease, causes skin findings (hyperpigmentation and hypertrichosis) and has characteristic features such as sensorineural hearing loss and deformities 1 . Patients commonly with hepatosplenomegaly, heart anomalies, growth retardation, hyperglycemia, hemolytic anemia and hypogonadism 2‐4 . The etiology of this disease is attributed to mutations within the SLC29A3 gene, encoding the human equilibrative nucleoside transporter 3 (hENT3), located on chromosome 10q22, either in a homozygous or compound heterozygous form 5 .…”

Section: Introductionmentioning

confidence: 99%

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Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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BackgroundThe H syndrome is an autosomal recessive disease characterized by hyperpigmentation, hypertrichosis and sensorineural hearing loss.MethodsA mutation in the coding of the human equilibrative nucleoside transporter 3 (hENT3) within the SLC29A3 gene on chromosome 10q22 leads to the manifestation of this disease. In this report, we present two cases of H syndrome.ResultsThe first patient exhibits hyperpigmentation, hypogonadism, Type 1 diabetes mellitus, arthritis and osteoporosis. The second patient experiences hyperpigmentation, hypertrichosis, osteopenia and hypogonadism.ConclusionOur objective is to broaden the clinical spectrum of H syndrome, highlighting the involvement of arthritis, hyperinflammation and low bone mineral density in individuals with this disorder.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Cases with the H syndrome presenting with skin and bone findings

Kose,

Baskaya,

Kilic

2024

Aust J Dermatology

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Multiple drugs

2022

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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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Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder

Cited by 4 publications

References 27 publications

Cases with the H syndrome presenting with skin and bone findings

Cases with the H syndrome presenting with skin and bone findings

Multiple drugs

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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