ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.
This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies were performed utilizing Sendai virus--mediated fusion of fibroblast cell lines. Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. These data suggest that the Nijmegen breakage syndrome and the patients described here are not genetically distinct entities but form a spectrum of one disorder.
Curry
C J
CJ
Department of Medical Genetics, Valley Children's Hospital, Fresno/University of California, San Francisco.
O'Lague
P
P
Tsai
J
J
Hutchison
H T
HT
Jaspers
N G
NG
Wara
D
D
Gatti
R A
RA
Hutchinson
H T
HT
D001260:Ataxia Telangiectasia / Q000235:genetics*; D002140:California; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004261:DNA Replication / Q000187:drug effects; D005260:Female; D005347:Fibroblasts / Q000166:cytology; D005816:Genetic Complementation Test; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics; D008214:Lymphocytes / Q000166:cytology*; D008297:Male; D012867:Skin / Q000473:pathology; D013577:Syndrome; D013936:Thymidine / Q000378:metabolism; D014965:X-Rays
D013936:Thymidine