Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

doi:10.3390/genes15070916

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Article

Phenotypic Expansion of Autosomal Dominant LZTR1-Related Disorders with Special Emphasis on Adult-Onset Features.

Genes - 13 Jul 2024

Uliana Vera, Ambrosini Enrico, Taiani Antonietta, Cesarini Sofia, Cannizzaro Ilenia Rita, Negrotti Anna, Serra Walter, Quintavalle Gabriele, Micale Lucia, Fusco Carmela, Castori Marco, Martorana Davide, Bortesi Beatrice, Belli Laura, Percesepe Antonio, Pisani Francesco, Barili Valeria

Abstract excerpt

Leucine zipper-like transcription regulator 1 (LZTR1) acts as a negative factor that suppresses RAS function and MAPK signaling; mutations in this protein may dysregulate RAS ubiquitination and lead to impaired degradation of RAS superfamily proteins. Germline LZTR1 variants are reported in Noonan syndrome, either autosomal dominant or autosomal recessive, and in susceptibility to schwannomatosis. This article...

Topics

Humans
Male
Female
Phenotype
Noonan Syndrome
Adult
Neurilemmoma
Neurofibromatoses
Trans-Activators
Skin Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Age of Onset

Transcription Factors

Parkinson Disease

Middle Aged

Genes, Dominant

Mutation

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Identifiers

PMID: 39062695
DOI: 10.3390/genes15070916
PMCID: PMC11276570

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