Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII

Dipika Mohanty, Kanjaksha Ghosh, Shrimati Shetty, Marta Spreafico, Isabella Garagiola, Flora Peyvandi

Research output: Contribution to journalArticlepeer-review

Abstract

Combined deficiency of factors V (FV) and factor VIII (FVIII) (F5F8D) is an autosomal recessive bleeding disorder caused by simultaneous moderate-to-mild decrease of both clotting proteins. Mutations in two components of the ER-Golgi intermediate compartment (ERGIC-53), i.e., lectin mannose binding protein (LMAN1) and multiple coagulation factor deficiency 2 (MCFD2), have been found to be responsible for this dual deficiency in most of the cases reported in literature. Three Indian families with F5F8D were analyzed for the presence of mutations in their LMAN1 and MCFD2 genes. One of the three families showed the presence of a G to A substitution in exon 2 of the MCFD2 gene, whereas another family showed a nonsense mutation, i.e., G to T substitution, in exon 2 of the LMAN1 gene, the latter being a novel mutation not previously reported. The third family did not show mutations in either of the two genes, suggesting that a significant subset of F5F8D cases may be due to additional genes resulting in a similar phenotype.

Original languageEnglish
Pages (from-to)262-266
Number of pages5
JournalAmerican Journal of Hematology
Volume79
Issue number4
DOIs
Publication statusPublished - Aug 2005

Keywords

  • Combined deficiency of FV and FVIII
  • F5F8D
  • LMAN1 gene mutation
  • MCFD2 gene mutation

ASJC Scopus subject areas

  • Hematology

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