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Article

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

PloS one - 1 Jan 2016

Wang Zheng, Iida Aritoshi, Miyake Noriko, Nishiguchi Koji M, Fujita Kosuke, Nakazawa Toru, Alswaid Abdulrahman, Albalwi Mohammed A, Kim Ok-Hwa, Cho Tae-Joon, Lim Gye-Yeon, Isidor Bertrand, David Albert, Rustad Cecilie F, Merckoll Else, Westvik Jostein, Stattin Eva-Lena, Grigelioniene Giedre, Kou Ikuyo, Nakajima Masahiro, Ohashi Hirohumi, Smithson Sarah, Matsumoto Naomichi, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic...

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Identifiers

PMID: 26974433
DOI: 10.1371/journal.pone.0150555
PMCID: PMC4790905

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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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