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

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 reveal...

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Bibliographic Details
Main Authors: Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu, Yu Sun, Wenjuan Qiu
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
AGL
glycogen storage disease type‐III
leigh syndrome
SURF1
uniparental isodisomy
Online Access:https://doi.org/10.1002/mgg3.945

Internet

https://doi.org/10.1002/mgg3.945

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