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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
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Transcobalamin II Deficiency in Four Cases with Novel Mutations.

Şule Ünal1, Tony Rupar, Sevgi Yetgin

  • 1Hacettepe University Faculty of Medicine, Division of Pediatric Hematology, Ankara, Turkey Phone: +90 312 305 11 70

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology
|April 28, 2015
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Transcobalamin II deficiency, a rare inherited vitamin B12 disorder, presents with normal or high vitamin B12 but low intracellular cobalamin. This study identifies novel mutations causing this condition in infants.

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Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Transcobalamin II deficiency is a rare inherited disorder affecting vitamin B12 transport.
  • It leads to intracellular cobalamin depletion despite normal or elevated serum vitamin B12 levels.
  • Characterized by elevated homocysteine and methylmalonic acid.

Observation:

  • This study reports on four patients diagnosed with transcobalamin II deficiency.
  • Novel mutations were identified in these patients.
  • Two patients shared a specific large deletion (homozygous c.1106+1516-1222+1231del).

Findings:

  • Identification of novel mutations in patients with transcobalamin II deficiency.
  • Confirmation of a specific homozygous deletion in two affected individuals.
  • Highlights the genetic heterogeneity and specific mutation types in this disorder.

Implications:

  • Transcobalamin II deficiency diagnosis is crucial for infants presenting with pancytopenia, failure to thrive, diarrhea, and vomiting.
  • Early diagnosis and management are essential for improving outcomes in affected infants.
  • Genetic analysis aids in understanding the molecular basis and inheritance patterns.