Molecular diagnosis of an infant with TSC2/ PKD1 contiguous gene syndrome

Keita Osumi; Kenichi Suga; Akemi Ono; Aya Goji; Tatsuo Mori; Yukiko Kinoshita; Mikio Sugano; Yoshihiro Toda; Maki Urushihara; Ryuji Nakagawa; Yasunobu Hayabuchi; Issei Imoto; Shoji Kagami

doi:10.1038/s41439-020-0108-0

Molecular diagnosis of an infant with TSC2/ PKD1 contiguous gene syndrome

Hum Genome Var. 2020 Jul 16:7:21. doi: 10.1038/s41439-020-0108-0. eCollection 2020.

Authors

Affiliations

¹ Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Tokushima Japan.
² Department of Cardiovascular Surgery, Tokushima University Hospital, Kuramotocho, Tokushima, Tokushima, Japan.
³ Department of Preventive Medicine, Division of Molecular Genetics, Aichi Cancer Center Research Institute, Nagoya, Aichi Japan.
⁴ Department of Cancer Genetics, Nagoya University Graduate School of Medicine, Nagoya, 466-8550 Japan.

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.

Keywords: Genetic testing; Polycystic kidney disease.