Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay
复制标题
PIK3CA 种系致病性变异导致对称性过度生长，伴有明显的大头畸形和轻度整体发育迟缓
DOI：
--
复制
发表时间：
2019
影响因子：
2
通讯作者：
N. Resta
中科院分区：
文献类型：
--
作者：
M. Zollino;C. Ranieri;V. Grossi;C. Leoni;S. Lattante;D. Mazzà;C. Simone;N. Resta
PIK3CA 基因中的激活致病性变异通常发生在嵌合状态，并且是各种节段过度生长表型的基础。 PIK3CA 种系变异的报道很少，迄今为止共有 12 名巨头畸形患者有描述。这些种系变异的临床和预后特征尚未详细描述。
Activating pathogenic variants in PIK3CA gene usually occur at a mosaic status and underlie a variety of segmental overgrowth phenotypes. Germline variants in PIK3CA have been rarely reported, described in a total of 12 patients with macrocephaly to date. Clinical and prognostic features of these germline variants have not been described in detail yet.