Quinlan-Jones Elizabeth, Williams Denise, Bell Charlotte, Miller Claire, Gokhale Carolyn, Kilby Mark D
1 Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
2 Department of Clinical Genetics, Birmingham Women's Hospital NHS Foundation Trust, Birmingham, UK.
Pediatr Dev Pathol. 2017 Jan-Feb;20(1):54-57. doi: 10.1177/1093526616669820. Epub 2017 Jan 25.
Mutations in PIK3CA are associated with overgrowth spectrum disorders including excessive growth in some areas of the body and the central nervous system. Alterations in PIK3CA occur as somatic, postzygotic events and confer a mosaic genotype with variability in phenotypic expression being commonly observed. We describe the second reported prenatal diagnosis of a PIK3CA-related overgrowth spectrum disorder. The prenatal ultrasound features in this case enabled the presumptive, prospective diagnosis to be made which was then confirmed by genetic testing. Subsequent parental testing for mutations in PIK3CA demonstrated normal genotypes. Identification of this mutation prenatally enabled prospective information to be provided to the family and facilitated multidisciplinary perinatal management.
PIK3CA基因的突变与过度生长谱系障碍相关，包括身体某些部位和中枢神经系统的过度生长。PIK3CA基因的改变是体细胞性的、合子后事件，并导致嵌合基因型，通常观察到表型表达存在变异性。我们描述了第二例报道的与PIK3CA相关的过度生长谱系障碍的产前诊断。该病例的产前超声特征使得能够进行推定的前瞻性诊断，随后通过基因检测得到证实。随后对父母进行PIK3CA基因突变检测，结果显示基因型正常。产前识别该突变能够为家庭提供前瞻性信息，并促进多学科围产期管理。
