Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa

Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: <i>SRD5A3</i>-Congenital Disorders of Glycosylation and <i>RP1</i>-Related Retinitis Pigmentosa

Purpose: Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two cases likely caused by UPD. Herein, we report these two cases and attempt to clarify the clinical picture of retinal dystrophi...

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Bibliographic Details
Main Authors: Nobutaka Tachibana, Katsuhiro Hosono, Shuhei Nomura, Shinji Arai, Kaoruko Torii, Kentaro Kurata, Miho Sato, Shuichi Shimakawa, Noriyuki Azuma, Tsutomu Ogata, Yoshinao Wada, Nobuhiko Okamoto, Hirotomo Saitsu, Sachiko Nishina, Yoshihiro Hotta
Format: Article
Language:English
Published: MDPI AG 2022-02-01
Series:Genes
Subjects:
uniparental isodisomy
retinal dystrophy
congenital disorders of glycosylation
<i>SRD5A3</i> gene
RP1-related retinitis pigmentosa
Online Access:https://www.mdpi.com/2073-4425/13/2/359

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https://www.mdpi.com/2073-4425/13/2/359

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