Robinson Research Institute, and Adelaide Medical School, University of Adelaide, Adelaide, Australia.
Hunter Genetics, Waratah, Australia.
Clin Genet. 2022 Jul;102(1):72-77. doi: 10.1111/cge.14136. Epub 2022 Apr 6.
Pathogenic variants in IQ motif and SEC7 domain containing protein 2 (IQSEC2) gene cause a variety of neurodevelopmental disorders, with intellectual disability as a uniform feature. We report five cases, each with a novel missense variant in the pleckstrin homology (PH) domain of the IQSEC2 protein. Male patients all present with moderate to profound intellectual disability, significant delays or absent language and speech and variable seizures. We describe the phenotypic spectrum associated with missense variants in PH domain of IQSEC2, further delineating the genotype-phenotype correlation for this X-linked gene.
IQ 基序和 SEC7 结构域蛋白 2（IQSEC2）基因中的致病性变异可引起多种神经发育障碍，以智力残疾为统一特征。我们报告了 5 例病例，每个病例的 IQSEC2 蛋白的 PH 结构域均存在新的错义变异。男性患者均表现为中度至重度智力残疾、语言和言语严重延迟或缺失以及不同程度的癫痫发作。我们描述了 IQSEC2 PH 结构域错义变异相关的表型谱，进一步阐明了这个 X 连锁基因的基因型-表型相关性。
