A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.

ABSTRACT:

Background

A multitude of studies have highlighted that copy number variants (CNVs) are associated with neurodevelopmental disorders (NDDs) characterized by a wide range of clinical characteristics. Benefiting from CNV calling from WES data, WES has emerged as a more powerful and cost-effective molecular diagnostic tool, which has been widely used for the diagnosis of genetic diseases, especially NDDs. To our knowledge, isolated deletions on chromosome 1p13.2 are rare. To date, only a few patients were reported with 1p13.2 deletions and most of them were sporadic. Besides, the correlation between 1p13.2 deletions and NDDs remained unclear.

Case presentation

Here, we first reported five members in a three-generation Chinese family who presented with NDDs and carried a novel 1

SUBMITTER: Yu L 

PROVIDER: S-EPMC10207759 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature