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Article

Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.

Journal of human genetics - 1 Sept 2022

Paparella Annalisa, Squeo Gabriella Maria, Di Venere Eleonora, Cardea Erica, Mazza Tommaso, Castellana Stefano, Kerkhof Jennifer, McConkey Haley, Sadikovic Bekim, Sinibaldi Lorenzo, Digilio Maria Cristina, Merla Giuseppe

Abstract excerpt

The search for aetiology of Mendelian disorders is traditionally based on the observation of clinical phenotypes and molecular screening of associated genes. However, a disease-specific diagnosis can be challenging. In this study we detail how the combinatorial genomic and epigenomic assessment allowed to find the underlying molecular event of a clinical case that remained misdiagnosed for years. The individual...

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Source

Identifiers

PMID: 35581385
DOI: 10.1038/s10038-022-01043-y

Genes

CTNNB1
KMT2D

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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