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The CDC Hemophilia B mutation project mutation list: a new online resource

Tengguo Li1, Connie H Miller1, Amanda B Payne1

  • 1Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention Atlanta, Georgia.

Molecular Genetics & Genomic Medicine
|February 6, 2014
PubMed

Insights

A comprehensive list of 1083 F9 gene mutations causing Hemophilia B (HB) has been compiled. This resource aids genetic counseling and inhibitor development prediction for the HB community.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Hemophilia B (HB) is a genetic bleeding disorder caused by mutations in the F9 gene.
  • Understanding the specific F9 mutation is crucial for genetic counseling and predicting inhibitor development in patients.

Purpose of the Study:

  • To create a comprehensive and accessible database of all reported F9 gene mutations causing Hemophilia B.
  • To provide a valuable resource for researchers and clinicians involved in Hemophilia B care.

Main Methods:

  • Literature review and analysis of existing databases to identify F9 mutations associated with Hemophilia B.
  • Compilation of mutations using Human Genome Variation Society (HGVS) nomenclature standards.
  • Inclusion of mutation type, predicted amino acid changes, mutation location, HB severity, inhibitor status, and publication references.

Main Results:

  • A curated list of 1083 unique F9 mutations causing Hemophilia B was developed.
  • The list is available in an easily accessible Microsoft Excel format.
  • Detailed information for each mutation, including HGVS nomenclature, is provided.

Conclusions:

  • The Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) mutation list serves as an accessible resource for the HB community.
  • This mutation list facilitates genetic counseling and aids in predicting inhibitor development in Hemophilia B patients.
  • The CHBMP mutation list is freely available online for public use.

Keywords:
F9 genehemophilia Bmutation database.

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