Description:
CYSTATHIONINURIA
CYSTATHIONINE GAMMA-LYASE; CTH
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid Metabolism |
| 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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Asian
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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 Chromosome Analysis |
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| Gene |
CTH |
| Chromosomal Location |
1p31.1 |
| Allelic Variant 1 |
607657.0001; CYSTATHIONINURIA |
| Identified Mutation |
2 BP DEL, 940CT |
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| Gene |
CTH |
| Chromosomal Location |
1p31.1 |
| Allelic Variant 2 |
607657.0001; CYSTATHIONINURIA |
| Identified Mutation |
2 BP DEL, 940CT |
| Cytogenetics |
Chromosome 12: ANEUPLOID Aneuploid Segment (+)12pter>12qter |
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Chromosome 12: ANEUPLOID Trisomic Segment 12pter>12qter |
| Remarks |
Unresponsive to B6; HLA type A28,A2, Bw40,Bw21; 47,XY,+12/47,XY,+12,add(13) (q34); 48%/52%; random chromosome rearrangements are present; donor subject is homozygous for a 2 bp deletion at nucleotide 940 in exon 8 of the CTH gene (940_941delCT) resulting in the substitution of threonine for leucine at codon 262 {Leu262Thr (L262T)] causing a stop codon at 282 |
| Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT, Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening Fertility and sterility97:819-824.e2 2011 |
| PubMed ID: 22342859 |
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| Wang J, Hegele RA, Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). Hum Genet112(4):404-8 2003 |
| PubMed ID: 12574942 |
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