Expanding the clinical phenotype and variant spectrum associated with RFX7
单倍率不足
表型
遗传学
生物
智力残疾
转录因子
突变
神经发育
神经科学
基因
作者
Talia Sisroe,Attila Dos Santos,Alyssa Ritter,Christopher H. Gray,Cara Skraban,Beverly Nelson,Sarah Tefft,Ingo Helbig,Dong Li,Elizabeth Bhoj,Andrew K. Sobering
Abstract RFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in RFX7 . A recognizable pattern of malformation associated with mutation in RFX7 has not yet been uncovered. Here we describe the phenotypic presentation of two additional individuals who have novel de novo variants in RFX7 . One of the individuals we describe is from an under‐represented Afro‐Caribbean population.