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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363882/
https://www.ncbi.nlm.nih.gov/pubmed/32695431
http://dx.doi.org/10.1038/s41439-020-0108-0
Descripción
Sumario: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.

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