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Article

Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.

Journal of human genetics - 1 Apr 2017

Wang Zheng, Horemuzova Eva, Iida Aritoshi, Guo Long, Liu Ying, Matsumoto Naomichi, Nishimura Gen, Nordgren Ann, Miyake Noriko, Tham Emma, Grigelioniene Giedre, Ikegawa Shiro

Abstract excerpt

Axial spondylometaphyseal dysplasia (axial SMD) is a unique form of SMD characterized by dysplasia of axial skeleton and retinal dystrophy. Recently, C21orf2 has been identified as the first disease gene for axial SMD; however, the presence of genetic heterogeneity is known. In this study, we identified NEK1 as the second disease gene for axial SMD. By whole-exome sequencing in a patient with axial SMD, we...

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Identifiers

PMID: 28123176
DOI: 10.1038/jhg.2016.157

Genes

NEK1

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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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