Clinical and molecular overlap between nucleotide excision repair (NER) disorders and <i>DYRK1A</i> haploinsufficiency syndrome.

ABSTRACT: Nucleotide excision repair (NER) disorders are genetic conditions caused by defects in the pathway responsible for repairing DNA lesions due to UV radiation. These defects lead to a variety of heterogeneous disorders, including Cockayne syndrome (CS) and trichothiodystrophy (TTD). In this study, we report 11 patients initially suspected of having CS or TTD who were ultimately diagnosed with DYRK1A haploinsufficiency syndrome using high-throughput sequencing. Comparing clinical presentations, we observed that DYRK1A symptoms overlapped with CS, with shared features such as intellectual disability and microcephaly, systematically present in both disorders and other common symptoms including feeding difficulties, abnormal brain imaging, ataxic gait, hypertonia, and deep-set eyes

SUBMITTER: Le May N 

PROVIDER: S-EPMC11979163 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature