Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Identifieur interne : 002A45 ( Main/Exploration ); précédent : 002A44; suivant : 002A46Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23.
Auteurs : Helen L. Hanson [Royaume-Uni] ; Meredith J. Wilson ; John P. Short ; Barry A. Chioza ; Andrew H. Crosby ; Ruth M. Nash ; Karen J. Marks ; Sahar MansourSource :
- American journal of medical genetics. Part A [ 1552-4833 ] ; 2014.
Descripteurs français
- KwdFr :
- MESH :
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Proto-Oncogene Proteins c-cbl.
- genetics : Lymphedema, Ovarian Neoplasms, Teratoma, Uniparental Disomy.
- Adolescent, Chromosomes, Human, Pair 11, Female, Germ-Line Mutation, Heterozygote, Humans.
Abstract
Germline mutations in the gene CBL (Casitas B-lineage lymphoma), involved in the RAS-MAPK signaling pathway, have been found as a rare cause of the neuro-cardio-facial-cutaneous syndromes. Somatically acquired homozygous CBL mutations were initially identified in association with myeloproliferative disorders, particularly juvenile myelomonocytic leukemia (JMML). We describe a girl with a Noonan-like phenotype of bilateral ptosis, lymphedema of the lower limbs and moderate intellectual disability, due to a de novo heterozygous mutation in CBL. She developed an ovarian mixed germ cell/teratoma with later occurrence of mature liver, omental, and ovarian teratomas. Copy neutral loss of heterozygosity for the CBL mutation due to acquired segmental uniparental disomy of 11q23 was observed in three teratomas, suggesting a specific association of CBL mutations in germ cell tumor predisposition.
DOI: 10.1002/ajmg.a.36375
PubMed: 24458550
Affiliations:
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Hanson</name><affiliation wicri:level="3"><nlm:affiliation>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>SW Thames Regional Genetics Service, St George's Healthcare NHS Trust, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wilson, Meredith J" sort="Wilson, Meredith J" uniqKey="Wilson M" first="Meredith J" last="Wilson">Meredith J. Wilson</name></author><author><name sortKey="Short, John P" sort="Short, John P" uniqKey="Short J" first="John P" last="Short">John P. Short</name></author><author><name sortKey="Chioza, Barry A" sort="Chioza, Barry A" uniqKey="Chioza B" first="Barry A" last="Chioza">Barry A. Chioza</name></author><author><name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H" last="Crosby">Andrew H. Crosby</name></author><author><name sortKey="Nash, Ruth M" sort="Nash, Ruth M" uniqKey="Nash R" first="Ruth M" last="Nash">Ruth M. Nash</name></author><author><name sortKey="Marks, Karen J" sort="Marks, Karen J" uniqKey="Marks K" first="Karen J" last="Marks">Karen J. Marks</name></author><author><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name></author></analytic><series><title level="j">American journal of medical genetics. 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Somatically acquired homozygous CBL mutations were initially identified in association with myeloproliferative disorders, particularly juvenile myelomonocytic leukemia (JMML). We describe a girl with a Noonan-like phenotype of bilateral ptosis, lymphedema of the lower limbs and moderate intellectual disability, due to a de novo heterozygous mutation in CBL. She developed an ovarian mixed germ cell/teratoma with later occurrence of mature liver, omental, and ovarian teratomas. Copy neutral loss of heterozygosity for the CBL mutation due to acquired segmental uniparental disomy of 11q23 was observed in three teratomas, suggesting a specific association of CBL mutations in germ cell tumor predisposition.</div></front></TEI><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><noCountry><name sortKey="Chioza, Barry A" sort="Chioza, Barry A" uniqKey="Chioza B" first="Barry A" last="Chioza">Barry A. Chioza</name><name sortKey="Crosby, Andrew H" sort="Crosby, Andrew H" uniqKey="Crosby A" first="Andrew H" last="Crosby">Andrew H. Crosby</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Marks, Karen J" sort="Marks, Karen J" uniqKey="Marks K" first="Karen J" last="Marks">Karen J. Marks</name><name sortKey="Nash, Ruth M" sort="Nash, Ruth M" uniqKey="Nash R" first="Ruth M" last="Nash">Ruth M. Nash</name><name sortKey="Short, John P" sort="Short, John P" uniqKey="Short J" first="John P" last="Short">John P. Short</name><name sortKey="Wilson, Meredith J" sort="Wilson, Meredith J" uniqKey="Wilson M" first="Meredith J" last="Wilson">Meredith J. Wilson</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Hanson, Helen L" sort="Hanson, Helen L" uniqKey="Hanson H" first="Helen L" last="Hanson">Helen L. Hanson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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