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Article

MTSS2 -Related Disorder: Refining the Phenotype in Four New Cases and Literature Review.

American journal of medical genetics. Part A - 1 Jun 2025

Dominicis Angela De, Sparascio Francesca Piceci, Stregapede Fabrizia, Terracciano Alessandra, Verrigni Daniela, Lepri Francesca Romana, Cetola Sarah, Dentici Maria Lisa, Vigevano Federico, Novelli Antonio, Specchio Nicola, Trivisano Marina, Digilio Maria Cristina

Abstract excerpt

MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086). We present clinical data about four new unrelated patients harboring the MTSS2 recurrent variant...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39890443
DOI: 10.1002/ajmg.a.64010

Genes

MTSS2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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