scholarly journals Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

2015 ◽  
Vol 47 (5) ◽  
pp. 512-517 ◽  
Author(s):  
Bridget D Stuart ◽  
Jungmin Choi ◽  
Samir Zaidi ◽  
Chao Xing ◽  
Brody Holohan ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Exome Sequencing ◽  
Telomere Shortening ◽  
Familial Pulmonary Fibrosis

scholarly journals HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis

2015 ◽  
Vol 46 (2) ◽  
pp. 474-485 ◽  
Author(s):  
Caroline Kannengiesser ◽  
Raphael Borie ◽  
Christelle Ménard ◽  
Marion Réocreux ◽  
Patrick Nitschké ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Genome Stability ◽  
Dna Helicase ◽  
Telomere Maintenance ◽  
Candidate Gene Approach ◽  
Autosomal Dominant Trait ◽  
Telomere Shortening ◽  
Telomere Elongation ◽  
Whole Exome ◽  
Familial Pulmonary Fibrosis

Pulmonary fibrosis is a fatal disease with progressive loss of respiratory function. Defective telomere maintenance leading to telomere shortening is a cause of pulmonary fibrosis, as mutations in the telomerase component genesTERT(reverse transcriptase) andTERC(RNA component) are found in 15% of familial pulmonary fibrosis (FPF) cases. However, so far, about 85% of FPF remain genetically uncharacterised.Here, in order to identify new genetic causes of FPF, we performed whole-exome sequencing, with a candidate-gene approach, of 47 affected subjects from 35 families with FPF withoutTERTandTERCmutations.We identified heterozygous mutations in regulator of telomere elongation helicase 1 (RTEL1) in four families. RTEL1 is a DNA helicase with roles in DNA replication, genome stability, DNA repair and telomere maintenance. The heterozygousRTEL1mutations segregated as an autosomal dominant trait in FPF, and were predicted by structural analyses to severely affect the function and/or stability of RTEL1. In agreement with this,RTEL1-mutated patients exhibited short telomeres in comparison with age-matched controls.Our results provide evidence that heterozygousRTEL1mutations are responsible for FPF and, thereby, extend the clinical spectrum of RTEL1 deficiency. Thus,RTEL1enlarges the number of telomere-associated genes implicated in FPF.

Rapidly Progressive Familial Pulmonary Fibrosis In 4 Children With An Unknown DNA Repair Defect

2010 ◽  
Author(s):  
Timothy J. Vece ◽  
Marc G. Schecter ◽  
Claire Langston ◽  
Christine K. Garcia ◽  
Megan K. Dishop ◽  
...  
Keyword(s):  
Dna Repair ◽  
Pulmonary Fibrosis ◽  
Repair Defect ◽  
Familial Pulmonary Fibrosis

scholarly journals Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred

2011 ◽  
Vol 38 (4) ◽  
pp. 861-869 ◽  
Author(s):  
S. Ono ◽  
T. Tanaka ◽  
M. Ishida ◽  
A. Kinoshita ◽  
J. Fukuoka ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C ◽  
Familial Pulmonary Fibrosis

scholarly journals Familial Pulmonary Fibrosis and Hermansky-Pudlak Syndrome Rare Missense Mutations in Context

2019 ◽  
Vol 200 (2) ◽  
pp. 253-256 ◽  
Author(s):  
Robert S. Stearman ◽  
Amber R. Cornelius ◽  
Lisa R. Young ◽  
David S. Conklin ◽  
Elizabeth A. Mickler ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Missense Mutations ◽  
Hermansky Pudlak Syndrome ◽  
Familial Pulmonary Fibrosis

scholarly journals Telomere Shortening in Familial and Sporadic Pulmonary Fibrosis

2008 ◽  
Vol 178 (7) ◽  
pp. 729-737 ◽  
Author(s):  
Jennifer T. Cronkhite ◽  
Chao Xing ◽  
Ganesh Raghu ◽  
Kelly M. Chin ◽  
Fernando Torres ◽  
...  
Keyword(s):  
Pulmonary Fibrosis ◽  
Telomere Shortening

scholarly journals Familial pulmonary fibrosis: Clinical and radiological characteristics and progression analysis in different high resolution-CT patterns

2017 ◽  
Vol 126 ◽  
pp. 75-83 ◽  
Author(s):  
David Bennett ◽  
Maria Antonietta Mazzei ◽  
Nevada Cioffi Squitieri ◽  
Elena Bargagli ◽  
Rosa Metella Refini ◽  
...  
Keyword(s):  
High Resolution ◽  
Pulmonary Fibrosis ◽  
High Resolution Ct ◽  
Familial Pulmonary Fibrosis
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