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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Tian, Wen Huang, Yingzhao Sun, Liying Guo, Yang Zhao, Sen Lin, Mao Dong, Xiying Zhong, Wenyao Yin, Yuehan Chen, Zefu Zhang, Nan Zhang, Yuanqiang Wang, Lianlei Lin, Jiachen Yan, Zihui Yang, Xinzhuang Zhao, Junhui Qiu, Guixing Zhang, Jianguo Wu, Zhihong Wu, Nan |
| Abstract | Background Isolated macrodactyly is a severe congenital hand anomaly with functional and physiological impact. Known causative genes include PIK3CA, AKT1 and PTEN. The aim of this study is to gain insights into the genetics basis of isolated macrodactyly. Results We enrolled 24 patients with isolated macrodactyly. Four of them were diagnosed with Proteus syndrome based on skin presentations characteristic to this disease. Targeted next-generation sequencing was performed using patients’ blood and affected tissues. Overall, 20 patients carry mosaic PIK3CA pathogenic variants, i.e. p.His1047Arg (N = 7), p.Glu542Lys (N = 6), p.Glu545Lys (N = 2), p.His1047Leu (N = 2), p.Glu453Lys (N = 1), p.Gln546Lys (N = 1) and p.His1047Tyr (N = 1). Four patients who met the diagnostic criteria of Proteus syndrome carry mosaic AKT1 p.Glu17Lys variant. Variant allele frequencies of these mosaic variants obtained through next-generation sequencing range from 10 to 33%. In genotype–phenotype correlation analysis of patients with PIK3CA variant, we found that patients with the macrodactyly of the lower limbs tend to carry PIK3CA variants located in the helical domain (P = 0.005). Conclusions Mosaic PIK3CA and AKT1 variants can be found in all of our samples with isolated macrodactyly. Insights into phenotypic and genetic spectrum of isolated macrodactyly may be helpful in perusing a more precise and effective management of isolated macrodactyly. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-020-01572-9.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-020-01572-9 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 15 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2020-10-14 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics Macrodactyly Phosphatidylinositol 3-kinase catalytic subunit alpha (PIK3CA) AKT1 serine/threonine kinase 1 (AKT1) Somatic mosaicism Proteus syndrome Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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