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Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
American journal of medical genetics, 2001-04, Vol.100 (2), p.116-121
Fillat, Cristina
Español, Teresa
Oset, Marta
Ferrando, Montse
Estivill, Xavier
Volpini, Victor
2001
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Fillat, Cristina
Español, Teresa
Oset, Marta
Ferrando, Montse
Estivill, Xavier
Volpini, Victor
Titel
Identification of WASP mutations in 14 Spanish families with Wiskott-Aldrich syndrome
Ist Teil von
American journal of medical genetics, 2001-04, Vol.100 (2), p.116-121
Ort / Verlag
New York: John Wiley & Sons, Inc
Erscheinungsjahr
2001
Quelle
MEDLINE
Beschreibungen/Notizen
The Wiskott‐Aldrich syndrome (WAS) is an X‐linked immunodeficiency caused by mutations in the WASP gene. The disease is known to be associated with extensive clinical variability, and mutation studies indicate that genotypes are also highly variant among WAS patients. In this study, we performed mutation analysis of the WASP gene in 14 unrelated Spanish families by single strand conformation analysis (SSCA) and sequencing, resulting in the identification of a novel mutation and nine known mutations. No mutation was identified in one family. The ten different mutations include point mutations resulting in amino acid substitutions, stop codons, and small deletions and insertions causing frameshifts. Missense mutations were preferentially located in the amino‐terminal part of the protein, exons 2 and 4, whereas stop and frameshift mutations were located in the carboxyl‐terminal region, exons 10 and 11. However, in two families, two missense mutations in exon 11 were identified. Our study demonstrates that WASP genotypes have some concordance with the patients' phenotypes, although mutation 1019delC, identified in a family with several affected members, resulted in high intrafamilial clinical variability. © 2001 Wiley‐Liss, Inc.
Sprache
Englisch
Identifikatoren
ISSN: 0148-7299
eISSN: 1096-8628
DOI: 10.1002/ajmg.1228
Titel-ID: cdi_proquest_miscellaneous_77042236
Format
–
Schlagworte
Biological and medical sciences
,
Codon, Nonsense
,
Codon, Terminator - genetics
,
Female
,
Frameshift Mutation
,
Hematologic and hematopoietic diseases
,
Humans
,
Male
,
Medical sciences
,
missense mutation
,
Mutation, Missense
,
nonsense mutation
,
Pedigree
,
Platelet diseases and coagulopathies
,
Polymerase Chain Reaction
,
Proteins - genetics
,
Spain
,
Wiskott-Aldrich syndrome
,
Wiskott-Aldrich Syndrome - ethnology
,
Wiskott-Aldrich Syndrome - genetics
,
Wiskott-Aldrich Syndrome Protein
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