Description:
DE SANCTIS-CACCHIONE SYNDROME
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Nucleotide and Nucleic Acid Metabolism |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Hispanic/Latino
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Ethnicity
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MEXICAN
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Family Member
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1
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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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| Passage Frozen |
1 |
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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 |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 1 |
133540.0002; COCKAYNE SYNDROME, TYPE B; DE SANCTIS-CACCHIONE SYNDROME, INCLUDED |
| Identified Mutation |
ARG735TER; Colella et al. [Hum. Molec. Genet. 9: 1171-1175 (2000)] demonstrated homozygosity for the arg735-to-ter mutation in the ERCC6 gene in 2 sibs with de Sanctis-Cacchione syndrome (278800), a form of xeroderma pigmentosum associated with severe neurologic involvement. The authors concluded that there is no simple correlation between molecular defects in Cockayne syndrome type B and clinical features, and that other genetic and/or environmental factors may determine the pathologic phenotype. |
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| Gene |
ERCC6 |
| Chromosomal Location |
10q11 |
| Allelic Variant 2 |
133540.0002; COCKAYNE SYNDROME, TYPE B; DE SANCTIS-CACCHIONE SYNDROME, INCLUDED |
| Identified Mutation |
ARG735TER; Colella et al. [Hum. Molec. Genet. 9: 1171-1175 (2000)] demonstrated homozygosity for the arg735-to-ter mutation in the ERCC6 gene in 2 sibs with de Sanctis-Cacchione syndrome (278800), a form of xeroderma pigmentosum associated with severe neurologic involvement. The authors concluded that there is no simple correlation between molecular defects in Cockayne syndrome type B and clinical features, and that other genetic and/or environmental factors may determine the pathologic phenotype. |
| Remarks |
Clinically affected; normal early development; development ceased by age 3 years old; lost ability to walk and most of speech; marked growth retardation without signs of the cachectic dwarfism seen in Cockayne syndrome; microcephaly, facial freckling, hyperpigmented macules and telangiectasias; spasticity of the limbs; ataxic and scissoring gait; mild equinovarus deformity of right foot; diminished deep-tendon reflexes; ocular and cutaneous solar sensitivity; mild strabismus; bilateral conjunctival erythema; parents are distant relatives; refer to patient 2 in Greenhaw et al (PMID: 1372469) for more details; as noted in a publication by Colella et al (PMID: 10767341), donor subject is homozygous for a C>T transition at nucleotide 2282 (2282C>T) in the ERCC6 gene, resulting in a nonsense mutation at codon 735 [ARG735TER (R735X)]; the donor subject is also homozygous for a silent change at nucleotide 2830 [a C>T transition (2830C>T; GLY917GLY)];see GM10902 (lymph); affected brother is GM10904(lymph)/GM10905(fibro); unaffected mother is GM10900(lymph)/GM10901(fibro).
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| Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent MC, Pasquier L, Odent S, Cormier-Daire V, Gener B, Tobias ES, Tolmie JL, Martin-Coignard D, Drouin-Garraud V, Heron D, Journel H, Raffo E, Vigneron J, Lyonnet S, Murday V, Gubser-Mercati D, Funalot B, Brueton L, Sanchez Del Pozo J, Muñoz E, Gennery AR, Salih M, Noruzinia M, Prescott K, Ramos L, Stark Z, Fieggen K, Chabrol B, Sarda P, Edery P, Bloch-Zupan A, Fawcett H, Pham D, Egly JM, Lehmann AR, Sarasin A, Dollfus H, Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome Human mutation31:113-26 2009 |
| PubMed ID: 19894250 |
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| Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M, Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum Human molecular genetics9:1171-5 2000 |
| PubMed ID: 10767341 |
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| Itoh T, Cleaver JE, Yamaizumi M, Cockayne syndrome complementation group B associated with xeroderma pigmentosum phenotype. Hum Genet97:176-9 1996 |
| PubMed ID: 8566949 |
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| Itoh T, Fujiwara Y, Ono T, Yamaizumi M, UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I. Am J Hum Genet56:1267-76 1995 |
| PubMed ID: 7539208 |
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| Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA, Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet50(4):677-89 1992 |
| PubMed ID: 1372469 |
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| Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA, Xeroderma pigmentosa with severe neurological involvement without significant repair defect. Am J Hum Genet45:A47 (1989):677-89 1989 |
| PubMed ID: 1372469 |
| Passage Frozen |
1 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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