De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.

ABSTRACT:

Background

Coffin-Siris syndrome is an extremely rare syndrome associated with developmental and congenital anomalies. It is caused by heterozygous pathogenic variants of ARID1A, ARID1B, SMARCA4, SMARCB1, SMARCE1, and SOX11.

Methods

This case study presents the whole exome sequencing of a patient with characteristic clinical features of Coffin-Siris syndrome. Analysis included Sanger sequencing of complementary DNA and bioinformatic analysis of the variant.

Results

Analysis of cDNA Sanger sequencing data revealed that the donor splice site variant led to skipping of exon 19. Further, bioinformatic analysis predicted abnormal splicing in a translational frameshift of 11 amino acids and the creation of a premature termination codon. Results found a novel de novo splice

SUBMITTER: Pranckeniene L 

PROVIDER: S-EPMC6900373 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature