PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

doi:10.1038/ejhg.2017.27

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Article

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

European journal of human genetics : EJHG - 1 May 2017

Low Karen J, Ansari Morad, Abou Jamra Rami, Clarke Angus, El Chehadeh Salima, FitzPatrick David R, Greenslade Mark, Henderson Alex, Hurst Jane, Keller Kory, Kuentz Paul, Prescott Trine, Roessler Franziska, Selmer Kaja K, Schneider Michael C, Stewart Fiona, Tatton-Brown Katrina, Thevenon Julien, Vigeland Magnus D, Vogt Julie, Willems Marjolaine, Zonana Jonathan, Study D D D, Smithson Sarah F

Abstract excerpt

PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the...

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Identifiers

PMID: 28327570
DOI: 10.1038/ejhg.2017.27
PMCID: PMC5392357

Genes

PUF60

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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