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Article

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

European journal of human genetics : EJHG - 1 Feb 2017

Cassina Matteo, Cerqua Cristina, Rossi Silvia, Salviati Leonardo, Martini Alessandro, Clementi Maurizio, Trevisson Eva

Abstract excerpt

Nager syndrome is a rare preaxial acrofacial dysostosis that is caused by heterozygous loss-of-function variants in SF3B4. This gene encodes for a protein required for the assembly of spliceosomal complexes, being a master gene for splicing regulation. The main clinical features of Nager syndrome include facial-mandibular and preaxial limb malformations, with normal cognitive functioning. Most Nager patients are...

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Identifiers

PMID: 27966544
DOI: 10.1038/ejhg.2016.176
PMCID: PMC5315512

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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