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.

Details

Title
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
Author
Osumi Keita 1   VIAFID ORCID Logo  ; Suga Kenichi 1 ; Ono Akemi 1 ; Goji Aya 1 ; Mori Tatsuo 1 ; Kinoshita Yukiko 1 ; Sugano Mikio 2 ; Toda Yoshihiro 1 ; Urushihara Maki 1 ; Nakagawa Ryuji 1 ; Hayabuchi Yasunobu 1   VIAFID ORCID Logo  ; Imoto Issei 3 ; Kagami Shoji 1 

1  Tokushima University Hospital, Kuramotocho, Department of Pediatrics, Tokushima, Japan (GRID:grid.412772.5) (ISNI:0000 0004 0378 2191) 
2  Tokushima University Hospital, Kuramotocho, Tokushima, Department of Cardiovascular Surgery, Tokushima, Japan (GRID:grid.412772.5) (ISNI:0000 0004 0378 2191) 
3  Aichi Cancer Center Research Institute, Department of Preventive Medicine, Division of Molecular Genetics, Nagoya, Japan (GRID:grid.410800.d) (ISNI:0000 0001 0722 8444); Nagoya University Graduate School of Medicine, Department of Cancer Genetics, Nagoya, Japan (GRID:grid.27476.30) (ISNI:0000 0001 0943 978X) 
Publication year
2020
Publication date
2020
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-020-0108-0
ProQuest document ID
2423959976
Copyright
© The Author(s) 2020. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.