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Article

Deep Sequencing and Phenotyping in an Australian Tuberous Sclerosis Complex "No Mutations Identified" Cohort.

Molecular genetics & genomic medicine - 1 Oct 2024

Chung Clara W T, Bournazos Adam M, Chan Lok Chi Denise, Sarkozy Vanessa, Lawson John, Kennedy Sean E, Cooper Sandra T, Kirk Edwin P, Mowat David

Abstract excerpt

Tuberous sclerosis complex (TSC) is a variable multisystem disorder. The "no mutations identified" (NMI) group are reportedly phenotypically milder than those with an identified molecular cause, and often have mosaic or intronic variants not detected by standard sequencing methods. METHODS: We describe the phenotypes in an Australian TSC NMI group (n = 18) and a molecular testing strategy implementable in a...

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Identifiers

PMID: 39352229
DOI: 10.1002/mgg3.70017
PMCID: PMC11443604

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