Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

doi:10.1101/gad.286351.116

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Article

Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.

Genes & development - 1 Oct 2016

Martin Carol-Anne, Murray Jennie E, Carroll Paula, Leitch Andrea, Mackenzie Karen J, Halachev Mihail, Fetit Ahmed E, Keith Charlotte, Bicknell Louise S, Fluteau Adeline, Gautier Philippe, Hall Emma A, Joss Shelagh, Soares Gabriela, Silva João, Bober Michael B, Duker Angela, Wise Carol A, Quigley Alan J, Phadke Shubha R, Wood Andrew J, Vagnarelli Paola, Jackson Andrew P

Abstract excerpt

Compaction of chromosomes is essential for accurate segregation of the genome during mitosis. In vertebrates, two condensin complexes ensure timely chromosome condensation, sister chromatid disentanglement, and maintenance of mitotic chromosome structure. Here, we report that biallelic mutations in NCAPD2, NCAPH, or NCAPD3, encoding subunits of these complexes, cause microcephaly. In addition, hypomorphic Ncaph2...

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Identifiers

PMID: 27737959
DOI: 10.1101/gad.286351.116
PMCID: PMC5088565

Genes

NCAPD2
NCAPD3
NCAPH

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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