Abstract | RATIONALE: 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: 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.
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Authors | Hongchun Du, Yubiao Guo, Di Ma, Kejing Tang, Decheng Cai, Yifeng Luo, Canmao Xie |
Journal | Medicine
(Medicine (Baltimore))
Vol. 97
Issue 19
Pg. e0724
(May 2018)
ISSN: 1536-5964 [Electronic] United States |
PMID | 29742735
(Publication Type: Case Reports, Journal Article)
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Chemical References |
- Adrenal Cortex Hormones
- TINF2 protein, human
- Telomere-Binding Proteins
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Topics |
- Adrenal Cortex Hormones
(therapeutic use)
- Adult
- Dyskeratosis Congenita
(complications, genetics)
- Fatal Outcome
- Female
- Humans
- Mutation, Missense
- Pedigree
- Pulmonary Fibrosis
(complications, drug therapy, genetics)
- Telomere-Binding Proteins
(genetics)
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