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Article

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

American journal of medical genetics. Part A - 1 Dec 2022

Fennell Andrew Paul, Baxter Anne Elizabeth, Berkovic Samuel Frank, Ellaway Carolyn Jane, Forwood Caitlin, Hildebrand Michael Stephen, Kumble Smitha, McKeown Colina, Mowat David, Poke Gemma, Rajagopalan Sulekha, Regan Brigid M, Scheffer Ingrid Eileen, Stark Zornitza, Stutterd Chloe Alice, Tan Tiong Yang, Wilkins Ella Jane, Yeung Alison, Hunter Matthew Frank

Abstract excerpt

Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay. It is caused by single nucleotide variants (SNVs) in PUF60 or interstitial deletions of the 8q24.3 region. PUF60 encodes a splicing factor which forms part of the spliceosome. To date, 36 patients with a sole diagnosis of VRJS due to...

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Abnormalities, Multiple
Intellectual Disability
Microcephaly
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Repressor Proteins

RNA Splicing Factors

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PMID: 36367278
DOI: 10.1002/ajmg.a.62950

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.PMID 36367278Read ↗

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