Molecular insight of dyskeratosis congenita: Defects in telomere length homeostasis.

ABSTRACT:

Background

Dyskeratosis congenita (DC) is a rare disease and is a heterogenous disorder, with its inheritance patterns as autosomal dominant, autosomal recessive, and X-linked recessive. This disorder occurs due to faulty maintenance of telomeres in stem cells. This congenital condition is diagnosed with three symptoms: oral leukoplakia, nail dystrophy, and abnormal skin pigmentation. However, because it has a wide range of symptoms, it may have phenotypes similar to other diseases. For this reason, it is necessary to use methods of measuring the Telomere Length (TL) and determining the shortness of the telomere in these patients so that it can be distinguished from other diseases. Today, the Next Generation Sequencing technique accurately detects mutations in the target genes.

SUBMITTER: Dorgaleleh S 

PROVIDER: S-EPMC8791241 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature