Interstitial Lung Disease

Gene: TINF2

I don't know

Several studies have reported an associated of TINF2 variants with adult onset pulmonary fibrosis in the presence and absence of dyskeratosis congenital. PMID: 29742735. PMID: 27088026.

Single Paediatric case reported.
PMID: 21477109. In a Caucasian girl with dyskeratosis congenital, Sasa et al. (2012) identified a heterozygous 811C-T transition in exon 6 of the TINF2 gene, resulting in a gln271-to-ter (Q271X) substitution. She presented at age 21 months with severe aplastic anemia and underwent hematopoietic stem cell transplantation. Subsequently, she developed skin hyperpigmentation, nail dystrophy, and oral leukoplakia, as well as epiphora, esophageal stricture, and osteopenia-related fractures. At age 10 years, she had progressive interstitial lung disease with fibrosis, gastrointestinal bleeding secondary to enteropathy, and noncirrhotic portal hypertension. She died at age 12 years from multiorgan failure.

Created: 6 Nov 2021, 11:43 a.m. | Last Modified: 6 Nov 2021, 11:43 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
OMIM#613990 - Dyskeratosis congenital (DKCA3); pulmonary fibrosis; chILD

Publications

• PMID: 21477109.

Green List (high evidence)

Well established gene-disease association, interstitial lung disease is a feature.

Created: 19 Jun 2021, 2:33 a.m. | Last Modified: 19 Oct 2021, 7:04 a.m.

Panel Version: 0.23

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Dyskeratosis congenita, autosomal dominant 3, MIM# 613990

Publications

• 18669893
• 21199492
• 18252230
• 21477109
• 33097095