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- Title
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.
- Authors
Osumi, Keita; Suga, Kenichi; Ono, Akemi; Goji, Aya; Mori, Tatsuo; Kinoshita, Yukiko; Sugano, Mikio; Toda, Yoshihiro; Urushihara, Maki; Nakagawa, Ryuji; Hayabuchi, Yasunobu; Imoto, Issei; Kagami, Shoji
- Abstract
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.
- Subjects
MOLECULAR diagnosis; POLYMERASE chain reaction; GENE expression; QUANTITATIVE research; MEDICAL care
- Publication
Human Genome Variation, 2020, Vol 7, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-020-0108-0