Phenotypes of Cornelia de Lange syndrome caused by non-cohesion genes: Novel variants and literature review.

ABSTRACT:

Background

Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by variants in cohesion genes including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. According to the 2018 consensus statement, a patient with clinical scored ≥ 11 points could be diagnosed as CdLS. However, some variants in non-cohesion genes rather than cohesion genes can manifest as phenotypes of CdLS.

Objectives

This study describes six variants of non-cohesion genes (KDM6A, KMT2D, KMT2A ANKRD11, and UBE2A), and assesses the reliability of 11-points scale criteria in the clinical diagnosis of CdLS.

Methods

Whole-exome sequencing (WES) was performed on six patients with features of CdLS. Phenotypic and genotypic spectra of 40 previously reporte

SUBMITTER: Shangguan H 

PROVIDER: S-EPMC9355708 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature