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Article

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia.

Clinical genetics - 1 Dec 2018

Uchiyama Yuri, Yanagisawa Kunio, Kunishima Shinji, Shiina Masaaki, Ogawa Yoshiyuki, Nakashima Mitsuko, Hirato Junko, Imagawa Eri, Fujita Atsushi, Hamanaka Kohei, Miyatake Satoko, Mitsuhashi Satomi, Takata Atsushi, Miyake Noriko, Ogata Kazuhiro, Handa Hiroshi, Matsumoto Naomichi, Mizuguchi Takeshi

Abstract excerpt

We report a patient with thrombocytopenia from a Japanese family with hemophilia A spanning four generations. Various etiologies of thrombocytopenia, including genetic, immunological, and hematopoietic abnormalities, determine the prognosis for this disease. In this study, we identified a novel heterozygous mutation in a gene encoding cytochrome c, somatic (CYCS, MIM123970) using whole exome sequencing. This...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Conformation, alpha-Helical

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Source

Identifiers

PMID: 30051457
DOI: 10.1111/cge.13423

Genes

CYCS

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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