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Article

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.

American journal of human genetics - 6 Oct 2022

Iturrate Asier, Rivera-Barahona Ana, Flores Carmen-Lisset, Otaify Ghada A, Elhossini Rasha, Perez-Sanz Marina L, Nevado Julián, Tenorio-Castano Jair, Triviño Juan Carlos, Garcia-Gonzalo Francesc R, Piceci-Sparascio Francesca, De Luca Alessandro, Martínez Leopoldo, Kalaycı Tugba, Lapunzina Pablo, Altunoglu Umut, Aglan Mona, Abdalla Ebtesam, Ruiz-Perez Victor L

Abstract excerpt

Orofaciodigital syndrome (OFD) is a genetically heterogeneous ciliopathy characterized by anomalies of the oral cavity, face, and digits. We describe individuals with OFD from three unrelated families having bi-allelic loss-of-function variants in SCNM1 as the cause of their condition. SCNM1 encodes a protein recently shown to be a component of the human minor spliceosome. However, so far the effect of loss of...

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Identifiers

PMID: 36084634
DOI: 10.1016/j.ajhg.2022.08.009
PMCID: PMC9606384

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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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