Krall et al., 2019 reported five individuals, including two sib pairs, with biallelic variants in the INTS1 gene who presented with absent or severely limited speech, abnormal gait, hypotonia, cataracts, and dysmorphic features; three of these individuals were diagnosed with ASD, while a fourth individual presented with autistic features. Oegema et al., 2017 had previously described three unrelated individuals with the same homozygous truncating variant in the INTS1 gene who presented with similar features.
Molecular Function
INTS1 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1) and U2 (RNU2).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies.
