Cerebellar Hypoperfusion in Two Patients with Cornelia de Lange Syndrome with Novel NIPBL Variants.

ABSTRACT:

Introduction

Cornelia de Lange syndrome (CdLS) is a rare congenital malformation characterized by distinctive facial features, short stature, and limb defects. In addition, half of the patients with CdLS exhibit repetitive self-injurious behaviors (SIBs) related to intellectual disability with autistic traits. CdLS is caused by pathogenic variants of genes encoding the cohesin complex pathway, with 70% of these variants identified in the nipped-B-like (NIPBL) gene.

Case presentation

We report 2 patients with CdLS who exhibited repetitive SIBs. Patient 1, a 40-year-old male, carried a novel heterozygous duplication variant, c.1458dup, p.(Glu487*), in exon 9 of the NIPBL gene. Patient 2, a 49-year-old female, carried a novel heterozygous insertion variant, c.1751

SUBMITTER: Obara K 

PROVIDER: S-EPMC9911990 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature