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Article

SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

American journal of human genetics - 7 Nov 2013

Dauber Andrew, Golzio Christelle, Guenot Cécile, Jodelka Francine M, Kibaek Maria, Kjaergaard Susanne, Leheup Bruno, Martinet Danielle, Nowaczyk Malgorzata J M, Rosenfeld Jill A, Zeesman Susan, Zunich Janice, Beckmann Jacques S, Hirschhorn Joel N, Hastings Michelle L, Jacquemont Sebastien, Katsanis Nicholas

Abstract excerpt

Copy-number variants (CNVs) represent a significant interpretative challenge, given that each CNV typically affects the dosage of multiple genes. Here we report on five individuals with coloboma, microcephaly, developmental delay, short stature, and craniofacial, cardiac, and renal defects who harbor overlapping microdeletions on 8q24.3. Fine mapping localized a commonly deleted 78 kb region that contains three...

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Share to Chromosomes, Human, Pair 8
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24140112
DOI: 10.1016/j.ajhg.2013.09.010
PMCID: PMC3824129

Genes

PUF60
SCRIB
NRBP2

Variants

Provenance

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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