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Article

Expanding the phenotype associated with biallelic SCNM1 variants.

Human genomics - 25 Nov 2025

Iturrate Asier, Tran-Mau Them Frédéric, Verloes Alain, Pouzet Antoine, de Silva Deepthi, Perrin-Sabourin Laurence, Wentzensen Ingrid M, Jones Kennedi, Upadia Jariya, Abdalla Ebtesam, Thauvin-Robinet Christel, Ruiz-Perez Victor L, Bruel Ange-Line

Abstract excerpt

BACKGROUND: Oral-facial-digital (OFD) syndrome comprises a number of genetically and clinically heterogeneous ciliopathies characterized by distinctive craniofacial, oral cavity and extremities abnormalities. Recently, SCNM1, encoding a protein component of the minor spliceosome, was associated with OFD syndrome. Until now, only three families had been described with pathogenic variants in this gene. RESULTS:...

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Source

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Identifiers

PMID: 41291844
DOI: 10.1186/s40246-025-00868-w
PMCID: PMC12750831

Genes

SCNM1
CIBAR1
TMEM107

Variants

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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