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

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.

SUBMITTER: Osumi K 

PROVIDER: S-EPMC7363882 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature