ArticleAmerican journal of human genetics2003
Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 78 citations in OpenAlex.
- Shorter Telomeres and Faster Telomere Attrition in Individuals With Five Syndromic Forms of Intellectual Disability: A Systematic Review and Meta-Analysis.Journal of intellectual disability research : JIDR · 2025Pooled it
- Article
- Bromodomain and extraterminal (BET) proteins: biological functions, diseases, and targeted therapy.Signal transduction and targeted therapy · 2023Review
- Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.Frontiers in medicine · 2022Article
- A Comprehensive Review of BET Protein Biochemistry, Physiology, and Pathological Roles.Frontiers in pharmacology · 2022Review
- Cell Cycle, Telomeres, and Telomerase inCells · 2021Review
- Article
- Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5.International journal of hematology · 2020Article
- Role of Telomeres and Telomeric Proteins in Human Malignancies and Their Therapeutic Potential.Cancers · 2020Review
- Telomeres and Telomere Length: A General Overview.Cancers · 2020Review
- Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.Molecular genetics & genomic medicine · 2020Article
- Telomere-related Markers for Cancer.Current topics in medicinal chemistry · 2020Review
- Inverted duplication, triplication and quintuplication through sequential breakage-fusion-bridge events induced by a terminal deletion at 5p in a case of spontaneous abortion.Molecular genetics & genomic medicine · 2019Article
- Mechanisms underlying the activation of TERT transcription and telomerase activity in human cancer: old actors and new players.Oncogene · 2019Review
- Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome.Genetics and molecular biology · 2019Article
- Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.BioMed research international · 2016Article
- 5p deletions: Current knowledge and future directions.American journal of medical genetics. Part C, Seminars in medical genetics · 2015Review
- A cryptic balanced translocation (5;17), a puzzle revealed through a critical evaluation of the pedigree and a FISH focused on candidate loci suggested by the phenotype.Molecular cytogenetics · 2015Article
- Multiplex ligation-dependent probe amplification and array comparative genomic hybridization analyses for prenatal diagnosis of cytogenomic abnormalities.Molecular cytogenetics · 2014Article
- Functional characterization of mutations in the promoter proximal region of the telomerase hTERC gene identified in patients with hematological disorders.International journal of clinical and experimental medicine · 2011Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cri du chat syndrome (CdCS) results from loss of the distal portion of chromosome 5p, where the telomerase reverse transcriptase (hTERT) gene is localized (5p15.33). hTERT is the rate-limiting component for telomerase activity that is essential for telomere-length maintenance and sustained cell proliferation. Here, we show that a concomitant deletion of the hTERT allele occurs in all 10 patients with CdCS whom we examined. Induction of hTERT mRNA in proliferating lymphocytes derived from five of seven patients was lower than that in unaffected control individuals (P<.05). The patient lymphocytes exhibited shorter telomeres than age-matched unaffected individuals (P<.0001). A reduction in replicative life span and a high rate of chromosome fusions were observed in cultured patient fibroblasts. Reconstitution of telomerase activity by ectopic expression of hTERT extended the telomere length, increased the population doublings, and prevented the end-to-end fusion of chromosomes. We conclude that hTERT is limiting and haploinsufficient for telomere maintenance in humans in vivo. Accordingly, the hTERT deletion may be one genetic element contributing to the phenotypic changes in CdCS.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.