Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder, caused by a loss‐of‐function of either TSC1 or TSC2 gene. However, in 10%–15% TSC patients there is no pathogenic variant identified in either TSC1 or TSC2 genes based on standard clinical testing. Me...

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Bibliographic Details
Main Authors: Seung Woo Ryu, Ji‐Hee Yoon, Dong‐wook Kim, Beomman Han, Heonjong Han, Joohyun Han, Hane Lee, Go Hun Seo, Beom Hee Lee
Format: Article
Language:English
Published: Wiley 2024-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
complex inversion
complex structural variant
genome sequencing
tuberous sclerosis complex
Online Access:https://doi.org/10.1002/mgg3.2330

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