Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome-Reference-Cited by-同舟云学术

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

Published:2020-07-16 Issue:1 Volume:7 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

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

Abstract

AbstractA 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.

Funder

MEXT | Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

http://www.nature.com/articles/s41439-020-0108-0.pdf

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