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Article ; Online: Genetics of human telomere biology disorders.

Revy, Patrick / Kannengiesser, Caroline / Bertuch, Alison A

2022 Volume 24, Issue 2, Page(s) 86–108

Abstract: Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that prevent the activation of DNA damage response and repair pathways. Numerous factors localize at telomeres to regulate their length, structure and function, to avert ...

Abstract	Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that prevent the activation of DNA damage response and repair pathways. Numerous factors localize at telomeres to regulate their length, structure and function, to avert replicative senescence or genome instability and cell death. In humans, Mendelian defects in several of these factors can result in abnormally short or dysfunctional telomeres, causing a group of rare heterogeneous premature-ageing diseases, termed telomeropathies, short-telomere syndromes or telomere biology disorders (TBDs). Here, we review the TBD-causing genes identified so far and describe their main functions associated with telomere biology. We present molecular aspects of TBDs, including genetic anticipation, phenocopy, incomplete penetrance and somatic genetic rescue, which underlie the complexity of these diseases. We also discuss the implications of phenotypic and genetic features of TBDs on fundamental aspects related to human telomere biology, ageing and cancer, as well as on diagnostic, therapeutic and clinical approaches.
MeSH term(s)	Humans ; Telomere/genetics ; Telomere/metabolism ; Aging/genetics ; Telomere Homeostasis ; Genomic Instability ; Biology ; Telomerase/genetics
Chemical Substances	Telomerase (EC 2.7.7.49)
Language	English
Publishing date	2022-09-23
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2035157-4
ISSN	1471-0064 ; 1471-0056
ISSN (online)	1471-0064
ISSN	1471-0056
DOI	10.1038/s41576-022-00527-z
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Zs.A 5474: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Somatic genetic rescue in Mendelian haematopoietic diseases.

Revy, Patrick / Kannengiesser, Caroline / Fischer, Alain

Nature reviews. Genetics

2019 Volume 20, Issue 10, Page(s) 582–598

Abstract: Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of ... ...

Abstract	Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of Mendelian haematopoietic disorders indicate that somatic genetic events can offset the pathogenic effect of germline mutations at the cellular level, leading to genetic mosaicism and, in some cases, resulting in a milder disease phenotype. Notably, spontaneous genetic events that confer a positive effect on cells do not always benefit the individual, for whom the effects can be neutral or even clinically detrimental. These somatic genetic rescue events have important diagnostic, therapeutic and clinical consequences and constitute valuable models for studying the differentiation and/or homeostasis of haematopoietic lineages.
MeSH term(s)	Animals ; Hematologic Diseases/genetics ; Humans ; Mosaicism ; Mutation/genetics ; Neoplasms/genetics ; Phenotype
Language	English
Publishing date	2019-06-11
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2035157-4
ISSN	1471-0064 ; 1471-0056
ISSN (online)	1471-0064
ISSN	1471-0056
DOI	10.1038/s41576-019-0139-x
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Zs.A 5474: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (2.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Pulmonary fibrosis: Genetic analysis of telomere-related genes, telomere length measurement-or both?

Kannengiesser, Caroline / Borie, Raphael / Renzoni, Elisabetta A

Respirology (Carlton, Vic.)

2018 Volume 24, Issue 2, Page(s) 97–98

MeSH term(s)	Humans ; Idiopathic Pulmonary Fibrosis ; Prognosis ; Telomerase/genetics ; Telomere ; Telomere Shortening
Chemical Substances	Telomerase (EC 2.7.7.49)
Language	English
Publishing date	2018-12-17
Publishing country	Australia
Document type	Editorial ; Comment
ZDB-ID	1435849-9
ISSN	1440-1843 ; 1323-7799
ISSN (online)	1440-1843
ISSN	1323-7799
DOI	10.1111/resp.13456
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Zs.A 4957: Show issues

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Article ; Online: Clinical impact of TERT somatic mutation in telomerase-related gene mutation carriers after lung transplantation.

Ba, Ibrahima / Kannengiesser, Caroline / Mal, Hervé / Reynaud-Gaubert, Martine / Cottin, Vincent / Hirschi, Sandrine / Picard, Clément / Borie, Raphael

The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation

2022 Volume 41, Issue 9, Page(s) 1207–1209

Abstract: Almost 25% of patients with pulmonary fibrosis referred for lung transplantation have a germline rare variant of a telomere-related gene. Acquired TERT promoter mutations may counterbalanced the germline defect and reduce the risk of hematological ... ...

Abstract	Almost 25% of patients with pulmonary fibrosis referred for lung transplantation have a germline rare variant of a telomere-related gene. Acquired TERT promoter mutations may counterbalanced the germline defect and reduce the risk of hematological complications in this population. In a series of 34 patients with a germline telomere-related gene mutation who underwent lung transplantation, 12 (35%) patients had at least 1 acquired TERT promoter mutation. Six patients presented myelodysplasia before lung transplantation, with no difference between patients with and without an acquired TERT promoter mutation. After lung transplantation, myelodysplasia developed in only 1 of 8 patients with an acquired TERT promoter mutation versus 7 of 18 patients without a mutation. Survival did not differ between patients with and without an acquired mutation. The presence of an acquired TERT promoter mutation could be associated with reduced hematological complications after transplantation and with better outcome in telomere-related gene mutation carriers but requires further study.
MeSH term(s)	Heterozygote ; Humans ; Lung Transplantation ; Mutation ; Telomerase/genetics ; Telomerase/metabolism ; Telomere
Chemical Substances	TERT protein, human (EC 2.7.7.49) ; Telomerase (EC 2.7.7.49)
Language	English
Publishing date	2022-06-19
Publishing country	United States
Document type	Journal Article
ZDB-ID	1062522-7
ISSN	1557-3117 ; 1053-2498
ISSN (online)	1557-3117
ISSN	1053-2498
DOI	10.1016/j.healun.2022.06.012
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Article ; Online: Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.

Bertrand, Alexis / Ba, Ibrahima / Kermasson, Laëtitia / Pirabakaran, Vithura / Chable, Noémie / Lainey, Elodie / Ménard, Christelle / Kallel, Faten / Picard, Capucine / Hadiji, Sondes / Coolen-Allou, Nathalie / Blanchard, Elodie / de Villartay, Jean-Pierre / Moshous, Despina / Roelens, Marie / Callebaut, Isabelle / Kannengiesser, Caroline / Revy, Patrick

Human molecular genetics

2024 Volume 33, Issue 7, Page(s) 612–623

Abstract: Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of telomeres. Germline defects that lead to short and/or dysfunctional ... ...

Abstract	Telomeres are nucleoprotein structures that protect the chromosome ends from degradation and fusion. Telomerase is a ribonucleoprotein complex essential to maintain the length of telomeres. Germline defects that lead to short and/or dysfunctional telomeres cause telomere biology disorders (TBDs), a group of rare and heterogeneous Mendelian diseases including pulmonary fibrosis, dyskeratosis congenita, and Høyeraal-Hreidarsson syndrome. TPP1, a telomeric factor encoded by the gene ACD, recruits telomerase at telomere and stimulates its activity via its TEL-patch domain that directly interacts with TERT, the catalytic subunit of telomerase. TBDs due to TPP1 deficiency have been reported only in 11 individuals. We here report four unrelated individuals with a wide spectrum of TBD manifestations carrying either heterozygous or homozygous ACD variants consisting in the recurrent and previously described in-frame deletion of K170 (K170∆) and three novel missense mutations G179D, L184R, and E215V. Structural and functional analyses demonstrated that the four variants affect the TEL-patch domain of TPP1 and impair telomerase activity. In addition, we identified in the ACD gene several motifs associated with small deletion hotspots that could explain the recurrence of the K170∆ mutation. Finally, we detected in a subset of blood cells from one patient, a somatic TERT promoter-activating mutation that likely provides a selective advantage over non-modified cells, a phenomenon known as indirect somatic genetic rescue. Together, our results broaden the genetic and clinical spectrum of TPP1 deficiency and specify new residues in the TEL-patch domain that are crucial for length maintenance and stability of human telomeres in vivo.
MeSH term(s)	Humans ; Biology ; Mutation ; Shelterin Complex/genetics ; Telomerase/genetics ; Telomere/genetics ; Telomere/metabolism ; Telomere-Binding Proteins/genetics ; Telomere-Binding Proteins/metabolism
Chemical Substances	Shelterin Complex ; Telomerase (EC 2.7.7.49) ; Telomere-Binding Proteins ; ACD protein, human
Language	English
Publishing date	2024-01-02
Publishing country	England
Document type	Journal Article
ZDB-ID	1108742-0
ISSN	1460-2083 ; 0964-6906
ISSN (online)	1460-2083
ISSN	0964-6906
DOI	10.1093/hmg/ddad210
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Zs.A 3469: Show issues

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Article ; Online: Impact of genetic factors on fibrosing interstitial lung diseases. Incidence and clinical presentation in adults.

Borie, Raphael / Kannengiesser, Caroline / Dupin, Clairelyne / Debray, Marie-Pierre / Cazes, Aurélie / Crestani, Bruno

Presse medicale (Paris, France : 1983)

2020 Volume 49, Issue 2, Page(s) 104024

Abstract: At least 10% of patients with pulmonary fibrosis, whether idiopathic or secondary, present heritable pulmonary fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 30% of those ... ...

Abstract	At least 10% of patients with pulmonary fibrosis, whether idiopathic or secondary, present heritable pulmonary fibrosis suspected on familial aggregation of pulmonary fibrosis, specific syndromes or early age of diagnosis. Approximately 30% of those patients have an identified mutation mostly in telomere related genes (TRG) more rarely in surfactant homeostasis or other genes. TRG mutation may be associated with hematological and hepatic diseases that may worsen after lung transplantation requiring a specific care and adapted immunosuppression. Surfactant genes mutations are usually associated with ground-glass opacities and cysts on CT scan and may improve with steroids, hydroxychloroquine or azithromycin. Moreover relatives should benefit from a genetic analysis associated with a clinical evaluation according to the gene involved. Genetics of pulmonary fibrosis raise specific problems from diagnosis, therapy or genetic counseling varying from one gene to another.
MeSH term(s)	Adult ; Female ; Genetic Predisposition to Disease ; Humans ; Incidence ; Lung Diseases, Interstitial/diagnostic imaging ; Lung Diseases, Interstitial/drug therapy ; Lung Diseases, Interstitial/epidemiology ; Lung Diseases, Interstitial/genetics ; Male ; Mutation ; Pedigree ; Pulmonary Fibrosis/diagnostic imaging ; Pulmonary Fibrosis/epidemiology ; Pulmonary Fibrosis/genetics ; Pulmonary Surfactant-Associated Proteins/genetics ; Risk Factors ; Steroids/therapeutic use ; Telomere/genetics ; Tomography, X-Ray Computed
Chemical Substances	Pulmonary Surfactant-Associated Proteins ; Steroids
Language	English
Publishing date	2020-05-11
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	120943-7
ISSN	2213-0276 ; 0032-7867 ; 0755-4982 ; 0301-1518
ISSN (online)	2213-0276
ISSN	0032-7867 ; 0755-4982 ; 0301-1518
DOI	10.1016/j.lpm.2020.104024
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Zs.A 794: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Ua VI Zs.87: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)

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Article: NKX2.1

Le Guen, Pierre / Borie, Raphael / Legendre, Marie / Dupin, Clairelyne / Dunogeant, Laetitia / Ottaviani, Sébastien / Debray, Marie-Pierre / Cazes, Aurélie / Dieudé, Philippe / Kannengiesser, Caroline / Crestani, Bruno

ERJ open research

2023 Volume 9, Issue 3

Abstract: This is the first case of a 37-year-old female patient carrier of a ... ...

Abstract	This is the first case of a 37-year-old female patient carrier of a heterozygous
Language	English
Publishing date	2023-05-09
Publishing country	England
Document type	Journal Article
ZDB-ID	2827830-6
ISSN	2312-0541
ISSN	2312-0541
DOI	10.1183/23120541.00682-2022
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Article ; Online: Impact of Air Pollution and MUC5B Genotype on Survival in Idiopathic Pulmonary Fibrosis.

Sesé, Lucile / Borie, Raphaël / Kannengiesser, Caroline / Cottin, Vincent / Israel-Biet, Dominique / Crestani, Bruno / Cadranel, Jacques / Chenivesse, Cécile / Boubaya, Marouane / Valeyre, Dominique / Annesi-Maesano, Isabella / Nunes, Hilario

Annals of the American Thoracic Society

2023 Volume 21, Issue 3, Page(s) 519–523

MeSH term(s)	Humans ; Idiopathic Pulmonary Fibrosis/genetics ; Genotype ; Air Pollution/adverse effects ; Mucin-5B/genetics
Chemical Substances	MUC5B protein, human ; Mucin-5B
Language	English
Publishing date	2023-12-13
Publishing country	United States
Document type	Letter
ZDB-ID	2717461-X
ISSN	2325-6621 ; 1943-5665 ; 2325-6621
ISSN (online)	2325-6621 ; 1943-5665
ISSN	2325-6621
DOI	10.1513/AnnalsATS.202305-495RL
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Zs.A 5828: Show issues

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Article ; Online: A double red cells population in a woman with a microcytic anemia.

Garçon, Loïc / Kannengiesser, Caroline

Blood

2014 Volume 123, Issue 6, Page(s) 808

MeSH term(s)	5-Aminolevulinate Synthetase/genetics ; Adult ; Anemia, Hypochromic/diagnosis ; Anemia, Hypochromic/drug therapy ; Anemia, Hypochromic/genetics ; Anemia, Sideroblastic/diagnosis ; Anemia, Sideroblastic/drug therapy ; Anemia, Sideroblastic/genetics ; Diagnosis, Differential ; Erythrocytes/pathology ; Female ; Genetic Diseases, X-Linked/diagnosis ; Genetic Diseases, X-Linked/drug therapy ; Genetic Diseases, X-Linked/genetics ; Heterozygote ; Humans ; Mutation/genetics ; Prognosis ; Pyridoxine/therapeutic use ; Vitamin B Complex/therapeutic use ; X Chromosome Inactivation
Chemical Substances	Vitamin B Complex (12001-76-2) ; 5-Aminolevulinate Synthetase (EC 2.3.1.37) ; ALAS2 protein, human (EC 2.3.1.37) ; Pyridoxine (KV2JZ1BI6Z)
Language	English
Publishing date	2014-03-18
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80069-7
ISSN	1528-0020 ; 0006-4971
ISSN (online)	1528-0020
ISSN	0006-4971
DOI	10.1182/blood-2013-10-529933
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Uh III Zs.140: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Simplex Droplet Digital PCR Assays for the Detection of TERT Promoter Mutations in Urine Samples for the Non-invasive Diagnosis of Urothelial Cancer.

Zvereva, Maria / Hosen, Md Ismail / Forey, Nathalie / Sheikh, Mahdi / Kannengiesser, Caroline / Ba, Ibrahima / Manel, Arnaud / Vian, Emmanuel / Le Calvez-Kelm, Florence

Methods in molecular biology (Clifton, N.J.)

2023 Volume 2684, Page(s) 213–228

Abstract: Somatic mutations in the telomerase reverse transcriptase (TERT) promoter region are highly frequent in urothelial cancer (UC), and their detection in urine (cell-free DNA from the urine supernatant or DNA from exfoliated cells in the urine pellet) has ... ...

Abstract	Somatic mutations in the telomerase reverse transcriptase (TERT) promoter region are highly frequent in urothelial cancer (UC), and their detection in urine (cell-free DNA from the urine supernatant or DNA from exfoliated cells in the urine pellet) has demonstrated promising evidence as putative non-invasive biomarkers for UC detection and monitoring. However, detecting these tumour-derived mutations in urine requires highly sensitive methods, capable of measuring low-allelic fraction mutations. We developed sensitive droplet digital PCR (ddPCR) assays for detecting urinary TERT promoter mutations (uTERTpm), targeting the two most common mutations (C228T and C250T), as well as the rare A161C, C228A, and CC242-243TT mutations. Here, we described the step-by-step protocol uTERTpm mutation screening using simplex ddPCR assays and give some recommendations for isolation of DNA from urine samples. We also provide limits of detection for the two most frequent mutations and discuss advantages of the method for clinical implementation of the assays for the detection and monitoring of UC.
MeSH term(s)	Humans ; Urinary Bladder Neoplasms/diagnosis ; Urinary Bladder Neoplasms/genetics ; Urinary Bladder Neoplasms/urine ; Carcinoma, Transitional Cell/diagnosis ; Carcinoma, Transitional Cell/genetics ; Carcinoma, Transitional Cell/urine ; Mutation ; Promoter Regions, Genetic ; Polymerase Chain Reaction/methods ; Telomerase/genetics
Chemical Substances	Telomerase (EC 2.7.7.49) ; TERT protein, human (EC 2.7.7.49)
Language	English
Publishing date	2023-07-06
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1940-6029
ISSN (online)	1940-6029
DOI	10.1007/978-1-0716-3291-8_13
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