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Proposed to cause severe hypofibrinogenemia in a recessive manner. Seen homozygously in one of three patients by Asselta et al 2002 (PMID: 12161363), and heterozygously in a single case reported by Asselta et al 2004 (PMID: 15070683).
Stop codon early in the gene, predicted to be extremely disruptive. Other variants in this gene cause this disease.
Seen in multiple cases
High clinical importance, Uncertain pathogenic
(The "high clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
Asselta R, Spena S, Duga S, Peyvandi F, Malcovati M, Mannucci PM, Tenchini ML.
Analysis of Iranian patients allowed the identification of the first truncating
mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia.
Haematologica. 2002 Aug;87(8):855-9. PubMed PMID: 12161363.
Asselta R, Duga S, Spena S, Peyvandi F, Castaman G, Malcovati M, Mannucci PM,
Tenchini ML. Missense or splicing mutation? The case of a fibrinogen Bbeta-chain
mutation causing severe hypofibrinogenemia. Blood. 2004 Apr 15;103(8):3051-4.
Epub 2003 Dec 24. PubMed PMID: 15070683.