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CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.

European journal of human genetics : EJHG - 1 Jun 2023

Amenta Simona, Marangi Giuseppe, Orteschi Daniela, Frangella Silvia, Gurrieri Fiorella, Paccagnella Elisa, Scala Marcello, Romano Ferruccio, Capra Valeria, Nigro Vincenzo, Zollino Marcella

Abstract excerpt

Loss-of-function variants in CHAMP1 were recently described as cause of a neurodevelopmental disorder characterized by intellectual disability (ID), autism, and distinctive facial characteristics. By exome sequencing (ES), we identified a truncating variant in CHAMP1, c.1858A > T (p.Lys620*), in a patient who exhibited a similar phenotype of severe ID and dysmorphisms. Whether haploinsufficiency or a dominant...

Topics

Humans
Quality of Life
Intellectual Disability
Neurodevelopmental Disorders
Autistic Disorder
Chromosome Deletion
Phenotype
Genomics
Chromosomal Proteins, Non-Histone

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PMID: 36797464
DOI: 10.1038/s41431-023-01305-z
PMCID: PMC10250409

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