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Blood, Vol. 95 No. 4 (February 15), 2000:
pp. 1493-1498
The IVS4 + 4 A to T mutation of the Fanconi anemia gene
FANCC is not associated with a severe phenotype in Japanese
patients
Makoto Futaki,
Takayuki Yamashita,
Hiroshi Yagasaki,
Tatsushi Toda,
Miharu Yabe,
Shunichi Kato,
Shigetaka Asano, and
Tatsutoshi Nakahata
From the Departments of Pediatrics and Hematology/Oncology,
Institute of Medical Science, University of Tokyo, Tokyo,
Japan; Laboratory of Genome Medicine, Human Genome Center,
Institute of Medical Science, University of Tokyo, Tokyo, Japan; and
the Department of Pediatrics, Tokai University School of Medicine,
Isehara, Japan.
Fanconi anemia (FA) is an autosomal recessive disease characterized
by congenital anomalies, aplastic anemia, and a susceptibility to
leukemia. There are at least 8 complementation groups (A through H).
Extensive analyses of the FA group C gene FANCC in Western countries revealed that 10% to 15% of FA patients have mutations of
this gene. The most common mutation is IVS4 + 4 A to T (IVS4), a
splice mutation in intron 4, which has been found only in patients of
Ashkenazi Jewish ancestry. When we screened 29 Japanese patients (20 unrelated patients and 4 families) using polymerase chain reaction-single strand conformation polymorphism, we found 8 unrelated patients homozygous for IVS4. This is apparently the first
non-Ashkenazi-Jewish population for whom this mutation has been
detected. The Ashkenazi Jewish patients homozygous for IVS4 have a
severe phenotype, in comparison with other FA patients. Our analyses of
Japanese patients indicate no significant difference between IVS4
homozygotes and other patients with regard to severity of a clinical
phenotype. Thus, ethnic background may have a significant effect on a
clinical phenotype in FA patients carrying the same mutation.
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