DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature.

ABSTRACT:

Background

DYRK1A-Related Intellectual Disability Syndrome is a rare autosomal dominant condition characterized by intellectual disability, speech and language delays, microcephaly, facial dysmorphism, and feeding difficulties. Affected individuals represent simplex cases that result from de novo heterozygous pathogenic variants in DYRK1A (OMIM 614104), or chromosomal structural rearrangements involving the DYRK1A locus. Due to the rarity of DYRK1A-Related Intellectual Disability Syndrome, the spectrum of symptoms associated with this disease has not been completely defined.

Methods and results

We present two unrelated cases of DYRK1A-Related Intellectual Disability Syndrome resulting from variants in DYRK1A. Both probands presented to the National Institutes of Health (NIH)

SUBMITTER: Meissner LE 

PROVIDER: S-EPMC7767569 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature