A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1

Biochem Biophys Res Commun. 2011 Jan 28;404(4):1099-104. doi: 10.1016/j.bbrc.2010.12.124. Epub 2010 Dec 31.

Abstract

A patient was diagnosed with leukocyte adhesion deficiency-1. She was born in 1996 and her parents are not known to be related. Her leukocytes expressed less than 2% of the CD18 antigens relative to normal individuals. Molecular analysis revealed that she is a compound heterozygote. She inherited a 27,703bp deletion from her father (g.43201_PTTG1IP:10890del27703), spanning from intron 11 of the gene for the β2 integrin (ITGB2, CD18, NG_007270.2) to intron 2 of the gene for the Pituitary Tumor-Transforming Gene 1 Interacting Protein (PTTG1IP, NC_000021.8). The maternal allele has a g.23457C>A mutation at position -10 in intron 2 of the ITGB2 gene, resulting in the activation of a cryptic 3' splice site in intron 2 to include 43 intronic nucleotides (r.[59-43_59-1ins;59-10C>A]).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • CD18 Antigens / genetics*
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Introns / genetics
  • Leukocyte-Adhesion Deficiency Syndrome / genetics*
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Point Mutation*
  • RNA Splice Sites / genetics*
  • RNA Splicing / genetics*
  • Sequence Deletion

Substances

  • CD18 Antigens
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • PTTG1IP protein, human
  • RNA Splice Sites