SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients

Details

Serval ID
serval:BIB_E3CAF38A603F
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
Journal
Human Genetics
Author(s)
Yin  L., Ferrand  V., Lavoue  M. F., Hayoz  D., Philippe  N., Souillet  G., Seri  M., Giacchino  R., Castagnola  E., Hodgson  S., Sylla  B. S., Romeo  G.
ISSN
0340-6717 (Print)
Publication state
Published
Issued date
11/1999
Volume
105
Number
5
Pages
501-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Nov
Abstract
X-linked lymphoproliferative disease (XLP) is a rare inherited immunodeficiency to Epstein-Barr virus (EBV). The gene responsible for XLP has recently been identified as the four-exon SH2D1A gene encoding a 128-amino-acid protein that contains an SH2-domain. Functional studies indicate the SH2D1A protein acts as a regulator of at least two signal transduction pathways initiated by the cell surface molecules SLAM and 2B4, respectively, and possibly related to the host immune response to EBV infection. We have carried out a systematic mutation study of the SH2D1A gene in our series of 19 typical and 8 atypical XLP patients by polymerase chain reaction (PCR), reverse transcription/PCR, and sequencing, and have reconstructed the haplotypes of the patients. Four out of the 13 mutations detected are previously unreported. The identification of SH2D1A mutations in carriers from all three XLP families screened and the detection of mutations in two out of eight atypical patients indicates the usefulness of a DNA-based diagnosis for XLP disease.
Keywords
Carrier Proteins/*genetics DNA Mutational Analysis Dinucleotide Repeats Exons Female Haplotypes Humans *Intracellular Signaling Peptides and Proteins *Linkage (Genetics) Lymphoproliferative Disorders/diagnosis/etiology/*genetics Male *Mutation Pedigree RNA, Messenger/genetics/metabolism Reverse Transcriptase Polymerase Chain Reaction Signal Transduction/genetics X Chromosome/*genetics src Homology Domains/genetics
Pubmed
Web of science
Create date
17/01/2008 16:38
Last modification date
20/08/2019 16:07
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