[Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia].

Abstract

Hereditary types I and II methemoglobinemia is a rare autosomal recessive disease due to a deficiency of either soluble or soluble and membrane-bound forms of the enzyme NADH-cytochrome b5 reductase. The molecular genetic bases of both types of the disease consist in changes in the CYB5R3 gene. In this study, the novel and, to date, only large deletion in this gene is described, discovered in two unrelated families with types I and II methemoglobinemia. The common founder haplotype on the chromosomes carrying this mutation was identified. A universal approach for searching for the deletion boundaries was developed, and the c.22-1320_633+1224del deletion breakpoints were determined. In addition, a system for identifying the deletion in heterozygous and homozygous states was designed.

• Authors: N M Galeeva, S A Nenasheva, I S Kleĭmenova, A V Poliakov
• Journal: Genetika (Genetika) Vol. 48 Issue 11 Pg. 1336-46 (Nov 2012) ISSN: 0016-6758 [Print] Russia (Federation)
• PMID: 23297489 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Cytochrome-B(5) Reductase

Topics

• Adult
• Child, Preschool
• Cytochrome-B(5) Reductase (deficiency, genetics)
• Female
• Haplotypes
• Humans
• Male
• Methemoglobinemia (enzymology, genetics)
• Pedigree
• Sequence Deletion