Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.

ABSTRACT:

Background

Uniparental disomy (UPD) leading to autosomal recessive (AR) diseases is rare. We found an unusual homozygous state in two nonconsanguineous families, and only one parent in each family was a heterozygote.

Methods

Two patients with homozygosity for pathogenic variants were revealed by whole-exome sequencing (WES), further Sanger sequencing found that only one of the parents was a heterozygote. Initial genotype and copy number variations analysis from WES data of probands involving whole chromosomes 1 and 9 containing these two pathogenic variants were performed, genome-wide single-nucleotide polymorphism (SNP) array analysis was used to confirm these results.

Results

Whole-exome sequencing identified a homozygous c.3423_3424delTG mutation in AGL in patient

SUBMITTER: Xiao B 

PROVIDER: S-EPMC6785455 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature