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Article

VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

European journal of medical genetics - 1 Jul 2026

Carelli Ilaria, Rondot Federico, Luca Maria, Reynolds Giuseppe, Massuras Stefania, Di Gregorio Eleonora, Marinoni Roberta, Papagni Giovanni, D'Alfonso Sandra, Colavito Davide, Patanè Anna, Brusco Alfredo, Mussa Alessandro

Abstract excerpt

INTRODUCTION: Ritscher-Schinzel syndrome (RTSC; 3C syndrome) is a rare syndromic neurodevelopmental disorder resulting from defects in endosomal recycling. Biallelic variants in VPS35L, encoding a core component of the Retriever complex, have only recently been implicated in RTSC. METHODS: Trio-based-whole exome sequencing was performed in a male infant with classical RTSC features. Variant pathogenicity was...

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Identifiers

PMID: 42144185
DOI: 10.1016/j.ejmg.2026.105085

Genes

VPS35L

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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