title: A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
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]).
authors.affiliation: School of Biological Sciences, Nanyang Technological University, Singapore.
authors.forename: T H
authors.initials: TH
authors.lastname: Bernard Cher
authors.forename: Hwee Sing
authors.initials: HS
authors.lastname: Chan
authors.forename: Georg F
authors.initials: GF
authors.lastname: Klein
authors.forename: Jörg
authors.initials: J
authors.lastname: Jabkowski
authors.forename: Gabriela
authors.initials: G
authors.lastname: Schadenböck-Kranzl
authors.forename: Otto
authors.initials: O
authors.lastname: Zach
authors.forename: Xavier
authors.initials: X
authors.lastname: Roca
authors.forename: S K Alex
authors.initials: SK
authors.lastname: Law
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D018821:CD18 Antigens / Q000235:genetics*; D005260:Female; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007438:Introns / Q000235:genetics; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018821:CD18 Antigens; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C112633:PTTG1IP protein, human; D022821:RNA Splice Sites