Homozygous Microdeletion Involving Exon 1 of ERCC8 and NDUFAF2 With Uniparental Isodisomy of Chromosome 5.

ABSTRACT:

Background

Uniparental isodisomy (UPiD) refers to a condition, in which both homologous chromosomes are inherited from only one parental homolog, which can result in either imprinting disorders or autosomal recessive conditions.

Methods

We performed chromosomal microarray analysis, exome sequencing (ES), and RNA sequencing (RNA-seq) using the patient's urine-derived cells on a patient with growth retardation and multiple congenital anomalies.

Results

We identified a homozygous ~0.53 kb microdeletion at 5q12.1, which was transmitted from the father with paternal UPiD(5). The deletion encompassed the first exon of both the ERCC8 and NDUFAF2 genes, which are responsible for Cockayne syndrome (CS) and mitochondrial complex I deficiency, respectively. Furthermore, RNA-seq

SUBMITTER: Yamoto K 

PROVIDER: S-EPMC11610623 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature