Name: Autosomal dominant dyskeratosis congenita-4 | Acronym: DKCA4
Alt. names: Dyskeratosis congenita, autosomal dominant 4

Gene: RTEL1 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2013

Last updated on: 2023-05-26 09:32:16 by

OMIM: 615190

Orphanet: 1775

MONDO: -

DOID: -

ClinGen:

Ballew et al. (2013) provided evidence for autosomal dominant DKC due to heterozygous RTEL1 mutations. In 1 family the heterozygous sib of a patient with autosomal recessive DKC/Hoyeraal-Hreidarsson syndrome had hypocellular bone marrow and short telomeres, but no additional features of the disorder. The authors recommended monitoring of the boy for the development of DKC-related complications. Their mother, who was heterozygous for the same pathogenic mutation, also had shortened telomeres. In a second family, 2 brothers had Hoyeraal-Hreidarsson syndrome associated with a heterozygous RTEL1 mutation (R1010X; 608833.0012). Their mother, who also carried the heterozygous mutations, was clinically unaffected, but had short telomeres. Ballew et al. (2013) postulated genetic anticipation in this family. In a third family, a 25-year-old man with autosomal dominant dyskeratosis congenita-4 due to a heterozygous RTEL1 mutation (A645T; 608833.0013) had mild developmental delay, learning difficulties, ADHD, depression, short stature, bone marrow failure, and short telomeres. His sister had nail dysplasia, short stature, and dental caries. These findings suggested that RTEL1 mutations can be pathogenic in the heterozygous state.

Description of management option has not been reviewed yet.