Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M

Clin Genet. 1995 Jul;48(1):46-8. doi: 10.1111/j.1399-0004.1995.tb04053.x.

Abstract

A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Base Sequence
  • CD40 Antigens*
  • CD40 Ligand
  • DNA
  • Female
  • Genetic Counseling*
  • Humans
  • Hypergammaglobulinemia / complications
  • Hypergammaglobulinemia / genetics*
  • Immunoglobulin M*
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / genetics*
  • Male
  • Membrane Glycoproteins / genetics*
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Open Reading Frames
  • Pedigree
  • X Chromosome

Substances

  • CD40 Antigens
  • Immunoglobulin M
  • Membrane Glycoproteins
  • CD40 Ligand
  • DNA