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Article

Chromosomal inversions as a hidden disease-modifying factor for somatic recombination phenotypes.

JCI insight - 22 Mar 2018

Nomura Toshifumi, Suzuki Shotaro, Miyauchi Toshinari, Takeda Masae, Shinkuma Satoru, Fujita Yasuyuki, Nishie Wataru, Akiyama Masashi, Shimizu Hiroshi

Abstract excerpt

Heterozygous chromosomal inversions suppress recombination. Therefore, they may potentially influence recombination-associated phenotypes of human diseases, but no studies have verified this hypothesis. Here, we describe a 35-year-old man with severe congenital ichthyosis. Mutation analysis revealed a heterozygous splice-site mutation, c.1374-2A>G (p.Ser458Argfs*120), in KRT10 on 17q21.2. This mutation was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29563344
DOI: 10.1172/jci.insight.97595
PMCID: PMC5926924

Genes

KRT10

Variants

Provenance

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