PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita.

Abstract Dyskeratosis congenita (DC) is a rare inherited disease characterized by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure, and solid tumors are the main causes of mortality in DC. Pathogenic variants in TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary fibrosis. Mutations in TINF2 gene have been reported to be associated with bone marrow failure in most cases. However, the relationship between TINF2 mutation and pulmonary fibrosis is not yet clear.
PMID
Related Publications

Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients.

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.

Treatment of dyskeratosis congenita-associated pulmonary fibrosis with danazol.

Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation.

Authors

Mayor MeshTerms

Mutation, Missense

Keywords
Journal Title medicine
Publication Year Start




PMID- 29742735
OWN - NLM
STAT- MEDLINE
DCOM- 20180516
LR  - 20180516
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 97
IP  - 19
DP  - 2018 May
TI  - A case report of heterozygous TINF2 gene mutation associated with pulmonary
      fibrosis in a patient with dyskeratosis congenita.
PG  - e0724
LID - 10.1097/MD.0000000000010724 [doi]
AB  - RATIONALE: Dyskeratosis congenita (DC) is a rare inherited disease characterized 
      by the classical mucocutaneous triad. Pulmonary fibrosis, bone marrow failure,
      and solid tumors are the main causes of mortality in DC. Pathogenic variants in
      TERT, TERC, and DKC1 have been identified in individuals with familial pulmonary 
      fibrosis. Mutations in TINF2 gene have been reported to be associated with bone
      marrow failure in most cases. However, the relationship between TINF2 mutation
      and pulmonary fibrosis is not yet clear. PATIENT CONCERNS: Here, we report the
      case of a 32-year-old woman presented with irritating cough for 2 years and
      progressive breathlessness for 6 months. DIAGNOSES: The patient was diagnosed
      with DC based on the following clinical evidences. Along with some family
      members, she had the typical mucocutaneous triad and pulmonary fibrosis. A
      heterozygous mutation (c.844C>T), located in exon 6 of TINF2 gene, that changed
      arginine to cysteine (Arg282Cys) was identified in this proband by whole exome
      sequencing. INTERVENTIONS: The patient received corticosteroid therapy but
      refused to receive lung transplantation. OUTCOMES: The proband died of
      respiratory failure 4 months after the diagnosis. The missense mutation was
      located in the conserved region of TINF2 gene and predicted to be deleterious by 
      altering the protein structure. LESSONS: Lung transplantation should be
      considered for improved survival of patients with DC, and pulmonary fibrosis.
      Whole exome and whole genome sequencing should be widely used in the
      identification of such rare genetic variants for clinical diagnosis. The study of
      DC with pulmonary fibrosis can provide a more appropriate means of clinical
      research and therapy to the unfortunate patients who suffer from this rare
      disorder.
FAU - Du, Hongchun
AU  - Du H
AD  - Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen
      University.
FAU - Guo, Yubiao
AU  - Guo Y
AD  - Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen
      University.
FAU - Ma, Di
AU  - Ma D
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern
      Medical University, Guangzhou, Guangdong, China.
FAU - Tang, Kejing
AU  - Tang K
AD  - Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen
      University.
FAU - Cai, Decheng
AU  - Cai D
AD  - Department of Medical Genetics, School of Basic Medical Sciences, Southern
      Medical University, Guangzhou, Guangdong, China.
FAU - Luo, Yifeng
AU  - Luo Y
AD  - Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen
      University.
FAU - Xie, Canmao
AU  - Xie C
AD  - Department of Respiratory Medicine, The First Affiliated Hospital, Sun Yat-sen
      University.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (Adrenal Cortex Hormones)
RN  - 0 (TINF2 protein, human)
RN  - 0 (Telomere-Binding Proteins)
SB  - AIM
SB  - IM
MH  - Adrenal Cortex Hormones/therapeutic use
MH  - Adult
MH  - Dyskeratosis Congenita/complications/*genetics
MH  - Fatal Outcome
MH  - Female
MH  - Humans
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Pulmonary Fibrosis/complications/drug therapy/*genetics
MH  - Telomere-Binding Proteins/*genetics
EDAT- 2018/05/10 06:00
MHDA- 2018/05/17 06:00
CRDT- 2018/05/10 06:00
PHST- 2018/05/10 06:00 [entrez]
PHST- 2018/05/10 06:00 [pubmed]
PHST- 2018/05/17 06:00 [medline]
AID - 10.1097/MD.0000000000010724 [doi]
AID - 00005792-201805110-00054 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2018 May;97(19):e0724. doi: 10.1097/MD.0000000000010724.