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

Bing XiaoLili WangHuili LiuYanjie FanYan XuYu SunWenjuan Qiu

Published in: Molecular genetics & genomic medicine (2019)

Our report highlights that a single NGS-based analysis could allow us to find homozygous sequence variants and copy-neutral LOH in such cases. Our report also describes the first case of GSDIII caused by UPiD 1 and Leigh syndrome caused by UPiD 9.

Keyphrases

copy number
squamous cell carcinoma

dna methylation
intellectual disability

autism spectrum disorder
locally advanced

amino acid