Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report.

ABSTRACT:

Background

Coffin-Siris Syndrome 8 (CSS8; MIM# 618362) is a rare neurodevelopmental disorder caused by heterozygous variants in the SMARCC2 gene. Patients with CSS8 present with variable phenotypic presentations, with speech abnormalities, behavioral issues, hypotonia, and dysmorphic features being the most common. Here, we report a novel de novo inversion involving SMARCC2, identified through long-read whole-genome sequencing, which highlights its added diagnostic value in uncovering complex structural variants.

Case presentation

The patient is a 12-year-old male of Arab descent, born to healthy, non-consanguineous parents. He presented with speech difficulties and behavioral issues, including autism spectrum disorder (ASD), obsessive-compulsive disorder (OCD), and attentio

SUBMITTER: Ibrahim AA 

PROVIDER: S-EPMC12752245 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature