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Wiskott-Aldrich syndrome in a family with Fanconi anemia

Authors :
Rohrer, J.
Ribeiro, R.C.
Auerbach, A.D.
Mirro, B.
Conley, M.E.
Source :
The Journal of Pediatrics; July 1996, Vol. 129 Issue: 1 p50-55, 6p
Publication Year :
1996

Abstract

Thrombocytopenia may be the presenting finding for both Wiskott-Aldrich syndrome and Fanconi anemia. We examined a sibship of four boys who had features of both of these hematologic disorders. Peripheral blood lymphocytes from three of the boys demonstrated DNA instability when cultured with diepoxybutane, confirming the diagnosis of Fanconi anemia in these patients. However, results of linkage analysis and X chromosome inactivation studies were consistent with the diagnosis of Wiskott-Aldrich syndrome in two of the boys, including one of the boys with Fanconi anemia. These findings could be attributed to the occurrence of two rare genetic disorders in a single family or to an unusual variant of Fanconi anemia. The recent identification of the Wiskott-Aldrich gene permitted us to address this question directly. Epstein-Barr virus-transformed cell lines from the two boys thought to have Wiskott-Aldrich syndrome on the basis of linkage analysis failed to express transcripts for the Wiskott-Aldrich gene. Genomic DNA from these two patients demonstrated a G insertion in the tenth exon of the Wiskott-Aldrich gene, resulting in a frameshift and a premature stop codon. Surprisingly, the patient with Fanconi anemia and a null mutation in the Wiskott-Aldrich gene had typical Fanconi anemia but mild Wiskott-Aldrich syndrome. (J PEDIATR 1996;129:50-5)

Details

Language :
English
ISSN :
00223476 and 10976833
Volume :
129
Issue :
1
Database :
Supplemental Index
Journal :
The Journal of Pediatrics
Publication Type :
Periodical
Accession number :
ejs9938161
Full Text :
https://doi.org/10.1016/S0022-3476(96)70189-0