Description:
ROTHMUND-THOMSON SYNDROME; RTS
RECQ PROTEIN-LIKE 4; RECQL4
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Repository
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NIA Aging Cell Culture Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
10 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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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XY
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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 |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 1 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2626G>A |
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| Gene |
RECQL4 |
| Chromosomal Location |
8q24.3 |
| Allelic Variant 2 |
; ROTHMUND-THOMSON SYNDROME |
| Identified Mutation |
g.2886delT |
| Remarks |
Clinically affected; diagnosed with osteosarcoma at age 21 years; small stature; severe poikiloderma; sparse eyebrows, eyelashes and hair; brother had RTS and died of metastatic osteosarcoma; donor is the son of AG18376/AG18459 (mother) and AG18377 (father); AG18375 is a fibroblast culture from the same donor; the donor subject is a compound heterozygote; in allele one at nucleotide g.2626 there is a G>A substitution (g.2626G>A) in exon 8 of the RECQL4 gene which leads to disrupted splicing; in allele two there is a 1 bp deletion at g.2886 (g.2886delT) in exon 9 of the RECQL4 gene which leads to a truncation. The karyotype is 46,XY with 2% of the cells examined showing random chromosome loss and 6% showing random chromosomal aberrations. The legacy karyotype description shown in this Remark may not be representative of the current available product. |
| Caballero M, Ge T, Rebelo AR, Seo S, Kim S, Brooks K, Zuccaro M, Kanagaraj R, Vershkov D, Kim D, Smogorzewska A, Smolka M, Benvenisty N, West SC, Egli D, Mace EM, Koren A, Comprehensive analysis of DNA replication timing across 184 cell lines suggests a role for MCM10 in replication timing regulation Human molecular genetics: 2021 |
| PubMed ID: 35394024 |
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| Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, Ruiz-Maldanado R, Contreras-Ruiz J, Cunniff C, Erickson RP, Lev D, Rogers M, Zackai EH, Plon SE, Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst95(9):669-74 2003 |
| PubMed ID: 12734318 |
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| Lindor NM, Furuichi Y, Kitao S, Shimamoto A, Arndt C, Jalal S, Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. Am J Med Genet90(3):223-8 2000 |
| PubMed ID: 10678659 |
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