G2Cdb::Human Disease report

Disease id
D00000098
Name
Juvenile chronic myelogenous leukaemia
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00000036 NF1
neurofibromin 1
Y (9713168) Deletion (D) Y

References

  • Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.

    Kai S, Sumita H, Fujioka K, Takahashi H, Hanzawa N, Funabiki T, Ikuta K and Sasaki H

    Department of Pediatrics, Yokohama City University School of Medicine, Japan.

    To investigate a genetic relation between juvenile chronic myelogenous leukemia (JCML) and neurofibromatosis type 1 (NF-1), we analyzed the NF1 gene in the leukemic cells of a JCML patient with NF-1. We found a point mutation in exon 29 of one allele and a deletion of the other normal allele in the leukemic cells. The point mutation is considered a germline mutation because it was also detected in fibroblasts obtained from the bone marrow of the patient and the peripheral blood mononuclear cells from a sibling. A loss of heterozygosity of NF1 gene may contribute to the progression of leukemia in NF-1 patients.

    International journal of hematology 1998;68;1;53-60

Literature (1)

Pubmed - human_disease

  • Loss of heterozygosity of NF1 gene in juvenile chronic myelogenous leukemia with neurofibromatosis type 1.

    Kai S, Sumita H, Fujioka K, Takahashi H, Hanzawa N, Funabiki T, Ikuta K and Sasaki H

    Department of Pediatrics, Yokohama City University School of Medicine, Japan.

    To investigate a genetic relation between juvenile chronic myelogenous leukemia (JCML) and neurofibromatosis type 1 (NF-1), we analyzed the NF1 gene in the leukemic cells of a JCML patient with NF-1. We found a point mutation in exon 29 of one allele and a deletion of the other normal allele in the leukemic cells. The point mutation is considered a germline mutation because it was also detected in fibroblasts obtained from the bone marrow of the patient and the peripheral blood mononuclear cells from a sibling. A loss of heterozygosity of NF1 gene may contribute to the progression of leukemia in NF-1 patients.

    International journal of hematology 1998;68;1;53-60

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