A TINF2 mutation with somatic reversion may be revealed in adults with pulmonary fibrosis

European Respiratory Journal

Volumn 44, Issue 1, 2014, Pages 270-271

  Kannengiesser, Caroline ^a   Borie, Raphael ^a,b   Revy, Patrick ^b,c  

^a BICHAT HOSPITAL   (France)

^b INSERM   (France)

^c Sorbonne University in Paris   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; DNA DETERMINATION; DYSKERATOSIS CONGENITA; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; LETTER; LUNG FIBROSIS; MOLECULAR CLONING; ONSET AGE; PRIORITY JOURNAL; REVERTANT; SOMATIC REVERSION; TINF2 GENE; FEMALE; GENETICS; MUTATION;

TELOMERE BINDING PROTEIN;

DYSKERATOSIS CONGENITA; FEMALE; HUMANS; MUTATION; PULMONARY FIBROSIS; TELOMERE-BINDING PROTEINS;

EID: 84903848664     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00038714     Document Type: Letter

References (3)

1. Fukuhara A, Tanino Y, Ishii T, et al. Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. Eur Respir J 2013; 42: 1757-1759.
2. Jongmans MC, Verwiel ET, Heijdra Y, et al. Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. Am J Hum Genet 2012; 90: 426-433.
3. Yamaguchi H, Inokuchi K, Takeuchi J, et al. Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes. Br J Haematol 2010; 150: 725-727.