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NA13817 DNA from LCL

Description:

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC

Affected:

Yes

Sex:

Male

Age:

4 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Nucleotide and Nucleic Acid Metabolism
Class Repair Defective and Chromosomal Instability Syndromes
Alternate IDs GM17090 [XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC]
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race Asian
Ethnicity KOREAN
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks XP22BE; Korean; skin lesions including squamous cell carcinoma and melanomas; mild developmental & significant speech delays; growth below the fifth percentile; hyperactivity with delayed motor development and absent speech; persistent low levels of glycine in the blood; increased levels of valine, isoleucine, leucine, methionine, and tyrosine in the blood and urine; the donor subject is homozygous for a T>G transversion in the splice donor site of exon 9 in the XPC gene (IVS9+2T>G) which results in three different mRNA isoforms: isoform I has a loss of exon 9, isoform II has an insertion of exons 9b and 9a, and isoform III has a deletion of exon 9 and an insertion of exon 9a.

Characterizations

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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
 
Gene XPC
Chromosomal Location 3p25
Allelic Variant 1 613208.0005; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, WITH AUTISM AND HYPOGLYCINEMIA
Identified Mutation IVS9DS, T>G, +2; Khan et al. [J. Invest. Derm. 111: 791-796 (1998)] found a T-to-G transversion at the splice donor site of XPC exon 9 in a 4-year-old boy of Korean ancestry who had xeroderma pigmentosum with sun sensitivity, multiple cutaneous neoplasms, and inability to speak. Neurologic examination showed hyperactivity and autistic features without typical XP neurologic abnormalities. Complementation studies assigned this case to XP group C. A markedly reduced level of XPC mRNA was found. Two XPC cDNA bands were identified. One band had a deletion of 161 bases comprising the entire exon 9, which resulted in premature termination of the mutant XPC mRNA. The larger band also had the same deletion of exon 9 but, in addition, had an insertion of 155 bases in its place (exon 9a), resulting in an in-frame XPC mRNA. The 155-bp XPC exon 9a insertion was located in intron 9 and was flanked by strong splice donor and acceptor sequences. Analysis of the patient's blood showed persistently low levels of glycine (68 microM; normal = 125-318 microM). Normal glycine levels were maintained with oral glycine supplements, and the patient's hyperactivity diminished.
 
Gene XPC
Chromosomal Location 3p25
Allelic Variant 2 613208.0005; XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C, WITH AUTISM AND HYPOGLYCINEMIA
Identified Mutation IVS9DS, T>G, +2; Khan et al. [J. Invest. Derm. 111: 791-796 (1998)] found a T-to-G transversion at the splice donor site of XPC exon 9 in a 4-year-old boy of Korean ancestry who had xeroderma pigmentosum with sun sensitivity, multiple cutaneous neoplasms, and inability to speak. Neurologic examination showed hyperactivity and autistic features without typical XP neurologic abnormalities. Complementation studies assigned this case to XP group C. A markedly reduced level of XPC mRNA was found. Two XPC cDNA bands were identified. One band had a deletion of 161 bases comprising the entire exon 9, which resulted in premature termination of the mutant XPC mRNA. The larger band also had the same deletion of exon 9 but, in addition, had an insertion of 155 bases in its place (exon 9a), resulting in an in-frame XPC mRNA. The 155-bp XPC exon 9a insertion was located in intron 9 and was flanked by strong splice donor and acceptor sequences. Analysis of the patient's blood showed persistently low levels of glycine (68 microM; normal = 125-318 microM). Normal glycine levels were maintained with oral glycine supplements, and the patient's hyperactivity diminished.

Phenotypic Data

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Remarks XP22BE; Korean; skin lesions including squamous cell carcinoma and melanomas; mild developmental & significant speech delays; growth below the fifth percentile; hyperactivity with delayed motor development and absent speech; persistent low levels of glycine in the blood; increased levels of valine, isoleucine, leucine, methionine, and tyrosine in the blood and urine; the donor subject is homozygous for a T>G transversion in the splice donor site of exon 9 in the XPC gene (IVS9+2T>G) which results in three different mRNA isoforms: isoform I has a loss of exon 9, isoform II has an insertion of exons 9b and 9a, and isoform III has a deletion of exon 9 and an insertion of exon 9a.

Publications

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Khan SG, Levy HL, Legerski R, Quackenbush E, Reardon JT, Emmert S, Sancar A, Li L, Schneider TD, Cleaver JE, Kraemer KH, Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia. J Invest Dermatol111(5):791-6 1998
PubMed ID: 9804340

External Links

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dbSNP dbSNP ID: 11894
Gene Cards XPC
Gene Ontology GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0005634 nucleus
GO:0006289 nucleotide-excision repair
NCBI Gene Gene ID:7508
NCBI GTR 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
613208 XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
OMIM 278720 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
613208 XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
Omim Description XERODERMA PIGMENTOSUM III; XP3
  XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC
  XP, GROUP C
  XPCC
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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