De Novo 2.2 Mb 19q13.42-q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model.
Amanda Toledo, Sarah Araji, Weimin Bi et al.
✦ AI-curated · Sources linked
Case in brief
A patient presented with a de novo 2.2 Mb deletion on chromosome 19q13.42-q13.43, which includes the U2AF2 gene. The clinical features included intellectual disability, epilepsy, hypoplasia of the corpus callosum, dysmorphic features, and congenital heart disease. These findings align with previously reported cases of U2AF2 variants, suggesting a haploinsufficiency mechanism. The case highlights the phenotypic spectrum associated with this deletion.
What made this case unusual
This case is notable for being the first postnatal report of a complete U2AF2 gene deletion, providing new insights into the clinical implications of such deletions.
Diagnostic / clinical pearl
Clinicians should consider the potential for haploinsufficiency in patients with intellectual disability and associated features when evaluating deletions involving the U2AF2 gene.
Why it matters
This case enhances understanding of the clinical spectrum linked to distal 19q chromosomal interstitial deletions, which may aid in the diagnosis and management of similar cases.