Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
Identifieur interne : 001046 ( Main/Exploration ); précédent : 001045; suivant : 001047Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.
Auteurs : Toshiki Takenouchi [Japon] ; Nobuhiko Okamoto [Japon] ; Shinobu Ida [Japon] ; Tomoko Uehara [Japon] ; Kenjiro Kosaki [Japon]Source :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2016.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Thrombopénie.
- génétique : Protéine G cdc42, Thrombopénie.
- Allèles, Analyse de mutations d'ADN, Exons, Faciès, Femelle, Humains, Hétérozygote, Mutation, Nourrisson, Phénotype, Syndrome, Études d'associations génétiques.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : cdc42 GTP-Binding Protein.
- diagnosis : Thrombocytopenia.
- genetics : Thrombocytopenia.
- Alleles, DNA Mutational Analysis, Exons, Facies, Female, Genetic Association Studies, Heterozygote, Humans, Infant, Mutation, Phenotype, Syndrome.
Abstract
We previously documented a girl with macrothrombocytopenia and developmental delay who carried a de novo mutation in CDC42, which plays pivotal roles in the cell cycle and the formation of the actin cytoskeleton. The phenotype of mice lacking Cdc42 was strikingly similar to that of the reported patient, indicating that the mutation in CDC42 causes a new syndromic form of thrombocytopenia. We, herein, report another unrelated female patient with a similar phenotype and a de novo mutation in the same CDC42. The present observation provides further evidence supporting the notion that a mutation in CDC42 causes a recognizable syndromic form of thrombocytopenia. The cardinal features of this entity include macrothrombocytopenia, developmental delay, lymphedema in the lower extremities, camptodactyly, and distinctive facial features.
DOI: 10.1002/ajmg.a.37526
PubMed: 26708094
Affiliations:
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Le document en format XML
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wicri:level="1"><nlm:affiliation>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka</wicri:regionArea><wicri:noRegion>Osaka</wicri:noRegion></affiliation></author><author><name sortKey="Ida, Shinobu" sort="Ida, Shinobu" uniqKey="Ida S" first="Shinobu" last="Ida">Shinobu Ida</name><affiliation wicri:level="1"><nlm:affiliation>Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Gastroenterology and Endocrinology, Osaka Medical Center and Research Institute for Maternal and Child Health, 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The phenotype of mice lacking Cdc42 was strikingly similar to that of the reported patient, indicating that the mutation in CDC42 causes a new syndromic form of thrombocytopenia. We, herein, report another unrelated female patient with a similar phenotype and a de novo mutation in the same CDC42. The present observation provides further evidence supporting the notion that a mutation in CDC42 causes a recognizable syndromic form of thrombocytopenia. The cardinal features of this entity include macrothrombocytopenia, developmental delay, lymphedema in the lower extremities, camptodactyly, and distinctive facial features.</div></front></TEI><affiliations><list><country><li>Japon</li></country><region><li>Région de Kantō</li></region><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><region name="Région de Kantō"><name sortKey="Takenouchi, Toshiki" sort="Takenouchi, Toshiki" uniqKey="Takenouchi T" first="Toshiki" last="Takenouchi">Toshiki Takenouchi</name></region><name sortKey="Ida, Shinobu" sort="Ida, Shinobu" uniqKey="Ida S" first="Shinobu" last="Ida">Shinobu Ida</name><name sortKey="Kosaki, Kenjiro" sort="Kosaki, Kenjiro" uniqKey="Kosaki K" first="Kenjiro" last="Kosaki">Kenjiro Kosaki</name><name sortKey="Okamoto, Nobuhiko" sort="Okamoto, Nobuhiko" uniqKey="Okamoto N" first="Nobuhiko" last="Okamoto">Nobuhiko Okamoto</name><name sortKey="Uehara, Tomoko" sort="Uehara, Tomoko" uniqKey="Uehara T" first="Tomoko" last="Uehara">Tomoko Uehara</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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