Coagulation factor XI: a database of mutations and polymorphisms associated with factor XI deficiency

Area of Science:

• Genetics
• Hematology
• Molecular Biology

Background:

• Hereditary factor XI deficiency is a rare bleeding disorder with increasing reported mutations globally.
• Existing databases and literature report fewer than 35 identified mutations, suggesting an incomplete catalog.
• A comprehensive survey of mutations and polymorphisms is needed for a better understanding of factor XI deficiency.

Purpose of the Study:

• To create a comprehensive database of all reported mutations and polymorphisms associated with hereditary factor XI deficiency.
• To consolidate data from major biological and medical databases and congress contributions.
• To establish a definitive resource for researchers studying factor XI deficiency genetics.

Main Methods:

• Systematic data collection from PubMed, OMIM, and the Human Gene Mutation Database.
• Inclusion of data from international congress contributions.
• Data compilation as of June 8, 2004.

Main Results:

• Identified 81 causative mutations for factor XI deficiency, with 12 found in multiple unrelated individuals.
• Described common founders for three frequent mutations: type II (Gln116Stop), type III (Phe283Leu), and Cys38Arg.
• Documented 20 polymorphisms associated with factor XI deficiency, three reported by independent groups, with published allele frequencies for Caucasian and Black populations.

Conclusions:

• The study significantly expands the known genetic landscape of factor XI deficiency beyond previously reported numbers.
• The established database serves as a crucial resource for genetic research and clinical understanding of this bleeding disorder.
• Further research into the functional impact and population-specific frequencies of these genetic variations is warranted.