A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1star, open

Bernard Chera, T.H. , Sing Chana, H. , Kleinb, G. F. , Jabkowskib, J. , Schadenböck-Kranzlc, G. , Zachd, O. , Roca, X., Alex Law, S.K. (January 2011) A novel 3′ splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1star, open. Biochemical and Biophysical Research Communications, 404 (4). pp. 1099-1104. ISSN 0006-291X

URL: https://www.ncbi.nlm.nih.gov/pubmed/21195692
DOI: 10.1016/j.bbrc.2010.12.124


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 27,703 bp 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]).

Item Type: Paper
Uncontrolled Keywords: lad-i itgb2 fusion gene splice mutation signal-transduction pathways cell-cycle progression lfa-1 integrins mac-1 expression identification infections activation separation
Subjects: diseases & disorders > immune system diseases > immunological deficiency diseases
organism description > animal > mammal > primates > hominids > human
bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > mutations
CSHL Authors:
Communities: CSHL labs > Krainer lab
Depositing User: CSHL Librarian
Date: 28 January 2011
Date Deposited: 26 Sep 2011 13:33
Last Modified: 21 Feb 2018 21:57
Related URLs:
URI: https://repository.cshl.edu/id/eprint/15356

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