Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia

Sepideh Akhavan, Matteo Luciani, Silvia Lavoretano, Pier Mannuccio Mannucci

Research output: Contribution to journalArticle

12 Citations (Scopus)

Abstract

We studied a 2-year-old boy with a phenotype of combined hypo- and dysprothrombinaemia. Sequencing of polymerase-chain-reaction-amplified genomic DNA revealed three different mutations in heterozygosity, a G to A transition at position 7312, resulting in the replacement of arginine 271 by histidine, an A to G transition at position 20058, resulting in the replacement of histidine 562 by arginine, and a 2-bp deletion at 20062-20063, causing a frameshift and a premature stop codon in exon 14. The first two mutations are compatible with the dysprothrombinaemia phenotype, whereas the small deletion is thought to be the cause of hypoprothrombinaemia.

Original languageEnglish
Pages (from-to)142-144
Number of pages3
JournalBritish Journal of Haematology
Volume120
Issue number1
DOIs
Publication statusPublished - 2003

Fingerprint

Hypoprothrombinemias
Heterozygote
Histidine
Arginine
Phenotype
Mutation
Nonsense Codon
Exons
Polymerase Chain Reaction
DNA
Dysprothrombinemia

Keywords

  • Congenital bleeding disorder
  • Dysprothrombinaemia
  • Hypoprothrombinaemia
  • Prothrombin deficiency

ASJC Scopus subject areas

  • Hematology

Cite this

Phenotypic and genetic analysis of a compound heterozygote for dys- and hypoprothrombinaemia. / Akhavan, Sepideh; Luciani, Matteo; Lavoretano, Silvia; Mannucci, Pier Mannuccio.

In: British Journal of Haematology, Vol. 120, No. 1, 2003, p. 142-144.

Research output: Contribution to journalArticle

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