Isolated glycerol kinase deficiency and Fanconi anemia

Sjarif, Damayanti Rusli; Révész, Tom; Koning, Tom J. de; Durán, Marinus; Beemer, F. A.; Poll-Thé, Bwee Tien

doi:10.1002/1096-8628(2000)9999:999<00::aid-ajmg1137>3.0.co;2-4

Cited by 3 publications

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“…It is recognized in two forms: complex GKD, the result of large deletions of multiple contiguous genes, and isolated GKD, resulting from point mutations and small intragenic deletions [1]. Patients who are true GK nulls resulting from gene deletion have facial dysmorphisms and mental retardation [27][28][29][30][31][32]. They also have seizures and developmental delay as well as hypotonia [30,[32][33][34][35].…”

Section: Introductionmentioning

confidence: 99%

Conserved family of glycerol kinase loci in Drosophila melanogaster

Martinez‐Agosto¹,

McCabe²

2006

Molecular Genetics and Metabolism

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Glycerol kinase (GK) is an enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol, the rate-limiting step in glycerol utilization. We analyzed the genome of the model organism Drosophila melanogaster and identified five GK orthologs, including two loci with sequence homology to the mammalian Xp21 GK protein. Using a combination of sequence analysis and evolutionary comparisons of orthologs between species, we characterized functional domains in the protein required for GK activity. Our findings include additional conserved domains that suggest novel nuclear and mitochondrial functions for glycerol kinase in apoptosis and transcriptional regulation. Investigation of GK function in Drosophila will inform us about the role of this enzyme in development and will provide us with a tool to examine genetic modifiers of human metabolic disorders.

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Section: Introductionmentioning

confidence: 99%

Conserved family of glycerol kinase loci in Drosophila melanogaster

Martinez‐Agosto¹,

McCabe²

2006

Molecular Genetics and Metabolism

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Cancer in Fanconi anemia, 1927–2001

Alter

2003

Cancer

403

267

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BACKGROUND. Fanconi anemia (FA) is an autosomal recessive disease associatedwith an abnormal response to DNA damage. Although FA is well known for the association of aplastic anemia and characteristic birth defects, leukemia and solid tumors also occur at a high rate in this group of patients. A review of all reported cases is informative with regard to the specific types of cancer, the ages at which they occur, and the cumulative probability of their development. METHODS.Medline and bibliographies of publications were searched for articles containing "Fanconi's anemia" or "aplastic anemia" and all cases of FA from 1927 through 2001 were included in the database. Cancer cases were identified within these reports. Descriptive statistical analyses were performed using Stata7 software. RESULTS.One thousand three hundred cases of FA were identified. Nine percent had leukemia (primarily acute myeloid leukemia), 7% had myelodysplastic syndrome, 5% had solid tumors, and 3% had liver tumors. Patients with cancer were older than the cancer-free patients at the time of diagnosis of FA. The median age for cancer (including leukemia) was 16, compared with 68 in the general population. The most frequent solid tumors were aerodigestive and gynecological carcinomas. In approximately 25% of patients with cancer, the malignancy preceded the diagnosis of FA. CONCLUSIONS.If the competing risks of aplastic anemia and leukemia could be removed, the estimated cumulative probability of development of a solid tumor in

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Medulloblastoma as a First Presentation of Fanconi Anemia

Tischkowitz

Chisholm²,

Gaze³

et al. 2004

Journal of Pediatric Hematology/Oncology

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Fanconi anemia is a chromosomal instability syndrome associated with certain congenital abnormalities, defective hemopoiesis, and an increased risk of developing acute myeloid leukemia and some solid tumors. The diagnosis can be made at birth if congenital abnormalities are present but is often made in childhood when hematologic complications develop. The authors report a case of Fanconi anemia diagnosed in a child with no congenital abnormalities and normal bone marrow who first presented with a cerebellar medulloblastoma. The authors discuss diagnostic and therapeutic implications for such malignancies in Fanconi anemia.

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Isolated glycerol kinase deficiency and Fanconi anemia

Cited by 3 publications

References 4 publications

Conserved family of glycerol kinase loci in Drosophila melanogaster

Conserved family of glycerol kinase loci in Drosophila melanogaster

Cancer in Fanconi anemia, 1927–2001

Medulloblastoma as a First Presentation of Fanconi Anemia

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