Description:
FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC
FANCC GENE; FANCC
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers
Chromosome Abnormalities
GeT-RM Samples |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Country of Origin
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USA
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227. |
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| MUTATION VERIFICATION |
The gene mutation(s) in this sample have been verified by 4 laboratories. |
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| Gene |
FANCC |
| Chromosomal Location |
9q22.3 |
| Allelic Variant 1 |
227645.0007; FANCONI ANEMIA, COMPLEMENTATION GROUP C |
| Identified Mutation |
1-BP DEL, 322G; Mutations within the FA complementation group C (FAC) gene account for approximately 14% of diagnosed FA cases. Two mutations, one in exon 1 (322delG) and the other in exon 4 (IVS4+4A-T; 227645.0003), account for 90% of known FAC mutations. The 322delG mutation results in a mild FA phenotype, while the IVS4 donor splice site mutation results in a severe FA phenotype. To determine the molecular basis for this clinical variability, Yamashita et al. (Blood 87:4424-4432, 1996) analyzed patient-derived cell lines for the expression of characteristic mutant FAC polypeptides. All cell lines with the 322delG mutation expressed a 50-kD FAC polypeptide, shown to be an N-terminal truncated isoform of FAC reinitiated at methionine 55. |
| Remarks |
Clinically affected; complementation group C; pancytopenia; thrombocytopenia; short stature; congestive heart failure; ptosis; nephroptotic kidney; chromosome breakage induced by DEB and MMC; on oxymetholone treatment; donor subject has one allele with a 1-bp deletion at nucleotide 322 in exon 1 of the FANCC gene [322delG] which results in a frameshift; 2 affected sisters.
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| Hammarsten O, Muslimovic A, Thunström S, Ek T, Johansson P, Use of the cell division assay to diagnose Fanconi anemia patients' hypersensitivity to mitomycin C Cytometry Part B, Clinical cytometry: 2020 |
| PubMed ID: 32857894 |
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| Kalman L, Wilson JA, Buller A, Dixon J, Edelmann L, Geller L, Highsmith WE, Holtegaard L, Kornreich R, Rohlfs EM, Payeur TL, Sellers T, Toji L, Muralidharan K, Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent The Journal of molecular diagnostics : JMD11:530-6 2009 |
| PubMed ID: 19815695 |
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