A novel 3' splice-site mutation and a novel gross deletion in leukocyte adhesion deficiency (LAD)-1.
Biochem Biophys Res Commun
; 404(4): 1099-104, 2011 Jan 28.
Article
em En
| MEDLINE
| ID: mdl-21195692
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_PTTG1IP10890del27703), spanning from intron 11 of the gene for the ß2 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]).
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Splicing de RNA
/
Mutação Puntual
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Síndrome da Aderência Leucocítica Deficitária
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Antígenos CD18
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Sítios de Splice de RNA
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Proteínas de Membrana
Limite:
Female
/
Humans
Idioma:
En
Revista:
Biochem Biophys Res Commun
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Singapura