SomaticPIK3CAmutations in seven patients withPIK3CA-related overgrowth spectrum
| Autor: | Evelyn Yue Ling Kuong, Brian H.Y. Chung, Paul K.H. Tam, Janice Jing Kun Ip, Chin Pang Chow, Kit San Yeung, Godfrey Chi-Fung Chan |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Klippel-Trenaunay-Weber Syndrome Pathology medicine.medical_specialty Adolescent Class I Phosphatidylinositol 3-Kinases Vascular Malformations Somatic cell Gene Expression Scoliosis medicine.disease_cause Polymerase Chain Reaction 03 medical and health sciences Genetics medicine Humans Nevus Genetic Testing Child neoplasms Genetic Association Studies Genetics (clinical) Genetic testing Mutation medicine.diagnostic_test business.industry medicine.disease Phenotype body regions 030104 developmental biology Lymphatic system Child Preschool Female business |
| Zdroj: | American Journal of Medical Genetics Part A. 173:978-984 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.38105 |
| Popis: | Somatic mutations in PIK3CA cause many overgrowth syndromes that have been recently coined the "PIK3CA-Related Overgrowth Spectrum." Here, we present seven molecularly confirmed patients with PIK3CA-Related Overgrowth Spectrum, including patients with Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal and Spinal syndrome, Klippel-Trenaunay syndrome, lymphatic malformation and two with atypical phenotypes that cannot be classified into existing disease categories. The literature on PIK3CA-Related Overgrowth Spectrum, suggests that PIK3CA c.1258T>C; p.(Cys420Arg), c.1624G>A; p.(Glu542Lys), c.1633G>A; p.(Glu545Lys), c.3140A>G; p.(His1047Arg), and c.3140A>T; p.(His1047Leu) can be identified in approximately 90% of patients without brain overgrowth. Therefore, droplet digital polymerase chain reaction targeting these mutation hotspots could be used as the first-tier genetic test on patients with PIK3CA-Related Overgrowth Spectrum who do not have signs of overgrowth in their central nervous system. © 2017 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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