A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Odaman-Al, Işık; Gezdirici, Alper; Yildiz, Melek; Ersoy, Gizem Zengin; Aydoğan, Gönül; Salcioglu, Zafer; Tahtakesen, Tuba Nur; Önal, Hasan; Küçükemre-Aydın, Banu

doi:10.24953/turkjped.2019.02.015

Cited by 4 publications

(1 citation statement)

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“…But we do not know if they will show up later. The similar situation, delayed diagnosis, has been reported in many previous cases (Kang et al, 2021; Odaman‐Al et al, 2019; Pichler et al, 2012; Pomahačová et al, 2017; Potter et al, 2017). This is mostly attributed to the low awareness of clinicians for this syndrome and treating TRMA as separate unrelated diseases over a long period of time.…”

Section: Discussionsupporting

confidence: 82%

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Yuan

Sun

et al. 2021

American J of Med Genetics Pt A

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Thiamine-responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a high-affinity thiamine transporter (THTR-1). TRMA is characterized by the occurrence of classical triad manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In addition to the systemic manifestations, ophthalmic features can be present and include retinitis pigmentosa, optic atrophy, cone-rod dystrophy, maculopathy, and Leber congenital amaurosis. Here we report a 6-year-old boy presenting severe early-onset retinal dystrophy with the initial diagnosis of Leber congenital amaurosis, which followed for 12 years. Diabetes mellitus occurred 3 years after vision problem. Eosinophilic granuloma of the left scapula was confirmed at 13 years old. Whole-exome sequencing was performed to identify two novel com-

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Section: Discussionsupporting

confidence: 82%

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Yuan

Sun

et al. 2021

American J of Med Genetics Pt A

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Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

Zhang

Qiao

Wang

et al. 2021

Clinica Chimica Acta

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Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in theSLC19A2Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia

Mohsen-Pour

Naderi

Ghasemi

et al. 2022

Laboratory Medicine

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Objective Solute carrier family 19 member 2 (SLC19A2, OMIM *603941) encodes thiamine human transporter 1 (THTR-1), which contributes to bringing thiamine (vitamin B1) into cells. Mutations in SLC19A2 lead to a rare recessive genetic disorder termed thiamine-responsive megaloblastic anemia (TRMA) syndrome. Methods An Iranian family with TRMA was investigated by whole-exome sequencing (WES) to determine the genetic cause(s) of the disease. Accordingly, SLC19A2 genetic variants were gathered through literature analysis. Results WES recognized a known pathogenic variant, c.697C > T (p. Q233X), within exon 2 of SLC19A2 (NM_006996). Subsequently, the proband’s parents and sister were confirmed as heterozygous carriers of the identified variant. Conclusion The diagnostic utility and affordability of WES were confirmed as the first approach for the genetic testing of TRMA to verify the diagnosis. This analysis can be used to guide future prenatal diagnoses and determine the consequences in the other family members.

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A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome

Cited by 4 publications

References 0 publications

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome

Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia

Whole-Exome Sequencing Revealed a Pathogenic Nonsense Variant in theSLC19A2Gene in an Iranian Family with Thiamine-Responsive Megaloblastic Anemia

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