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Dergiler / Turkish Journal of Pediatrics / 2016 / Cilt: 58 - Sayı: 1

Recessive congenital methemoglobinemia in immediate generations

Deniz ASLAN
Gülsan TÜRKÖZ-SUCAK
Melanie Joan PERCY
Sayfa
113–115
Yayın Tarihi
2022-11-05
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:We report herein on our observation of recessive congenital methemoglobinemia(type I), an autosomal recessive disorder, in immediate generations (in amother and her daughter).
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Temel Bulgular & Veri:Molecular analysis revealed a mechanism ofinheritance not reported previously, despite the high probability of occurrencein autosomal recessive disorders.
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Sonuç & Katkı:This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Abstract

We report herein on our observation of recessive congenital methemoglobinemia(type I), an autosomal recessive disorder, in immediate generations (in amother and her daughter). Molecular analysis revealed a mechanism ofinheritance not reported previously, despite the high probability of occurrencein autosomal recessive disorders. This report is also the first publicationdescribing an extremely rare mutation (Arg50Gln) causing this disorder inthe Turkish population.

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Bu Makaleye Atıf Yap

ASLAN, D., TÜRKÖZ-SUCAK, G., PERCY, M. J. (2022). Recessive congenital methemoglobinemia in immediate generations. Turkish Journal of Pediatrics, Cilt: 58 - Sayı: 1, 113–115. https://ajindex.com/articles/613175

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Kaynakça (8)

  1. Percy MJ, Lappin TR. Recessive congenital methaemoglobinaemia: cytochrome b(5) reductase deficiency. Br J Haematol 2008; 141: 298-308
  2. Tomatsu S, Kobayashi Y, Fukumaki Y, Yubisui T, Orii T, Sakaki Y. The organization and the complete nucleotide sequence of the human NADH-cytochrome b5 reductase gene. Gene 1989; 80: 353-361
  3. Ewenczyk C, Leroux A, Roubergue A, et al. Recessive hereditary methaemoglobinaemia, type II: delineation of the clinical spectrum. Brain 2008; 131: 760-761
  4. Percy MJ, McFerran NV, Lappin TR. Disorders of oxidised haemoglobin. Blood Rev 2005; 19: 61-68
  5. Viana MB, Belisário AR. De novo alpha 2 hemoglobin gene (HBA2) mutation in a child with hemoglobin M Iwate and symptomatic methemoglobinemia since birth. Rev Bras Hematol Hemoter 2014; 36: 230-234
  6. Huang YH, Tai CL, Lu YH, Wu TJ, Chen HD, Niu DM. Recessive congenital methemoglobinemia caused by a rare mechanism: maternal uniparental heterodisomy with segmental isodisomy of a chromosome 22. Blood Cells Mol Dis 2012; 49: 114-117
  7. Dekker J, Eppink MH, van Zwieten R, et al. Seven new mutations in the nicotinamide adenine dinucleotide reduced-cytochrome b(5) reductase gene leading to methemoglobinemia type I. Blood 2001; 97: 1106-1114
  8. Percy MJ, Barnes C, Crighton G, Leventer RJ, Wynn R, Lappin TR. Methemoglobin reductase deficiency: novel mutation is associated with a disease phenotype of intermediate severity. J Pediatr Hematol Oncol 2012; 34: 457-460.