Murray Clark R, Abel Samantha N, McClure Matthew B, Foster Joseph, Walke Maria I, Jayakar Parul, Bademci Guney, Tekin Mustafa
Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, Florida, United States.
Nicklaus Childreǹs Hospital, Miami, Florida, United States.
J Pediatr Genet. 2017 Jun;6(2):77-83. doi: 10.1055/s-0037-1598639. Epub 2017 Feb 14.
Patients with unclear patterns of developmental and cognitive delay may go years without a definitive diagnosis despite extensive testing due to overlapping phenotypes of many genetic disorders. In this study, we identified causative variants in , , or in four individuals with global developmental delay and various findings including microcephaly and sensorineural hearing loss using whole exome sequencing. We present the cognitive, neurologic, and physical findings of four individuals to expand the clinical knowledge of possible features of the phenotypes of three rare genetic disorders. Through this process, we provide support for the use of whole exome sequencing in the setting of severe, intellectual disability or in those in whom a genetic disorder is suspected despite initial negative testing.
由于许多遗传疾病的表型重叠，发育和认知延迟模式不明确的患者尽管进行了广泛的检测，仍可能多年无法得到明确诊断。在本研究中，我们使用全外显子组测序，在四名患有全面发育迟缓并伴有多种症状（包括小头畸形和感音神经性听力损失）的个体中，鉴定出了 、 或 的致病变异。我们展示了这四名个体的认知、神经和身体检查结果，以扩充对三种罕见遗传疾病可能出现的表型特征的临床认识。通过这一过程，我们为在严重智力残疾患者或尽管初始检测为阴性但怀疑患有遗传疾病的患者中使用全外显子组测序提供了支持。
