Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability

被引:23
|
作者
Stojanovic, Jelena Ruml [1 ]
Miletic, Aleksandra [1 ]
Peterlin, Borut [2 ]
Maver, Ales [2 ]
Mijovic, Marija [1 ]
Borlja, Nikola [3 ]
Dimitrijevic, Brankica [1 ]
Soldatovic, Ivan [4 ]
Cuturilo, Goran [1 ,4 ]
机构
[1] Univ Childrens Hosp, Dept Clin Genet, Belgrade, Serbia
[2] Univ Med Ctr Ljubljana, Clin Inst Med Genet, Ljubljana, Slovenia
[3] Centogene AG, Rostock, Germany
[4] Univ Belgrade, Fac Med, Belgrade, Serbia
关键词
clinical genetic diagnostics; genetic counseling; genotype-phenotype correlations; clinical management; NEURODEVELOPMENTAL DISORDERS; ALTERNATING HEMIPLEGIA; GENE; MUTATIONS; GENOME; INHERITANCE; MICROARRAY; GUIDELINES; STANDARDS; VARIANTS;
D O I
10.1177/0883073819879835
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Clinical exome sequencing is currently being used in diagnostics of various genetic disorders, but studies supporting its application in clinical setting are scarce. The aim of this study was to establish diagnostic and clinical utility of clinical exome sequencing in patients with moderate and severe global developmental delay/intellectual disability. Clinical diagnosis was made in 49 of 88 investigated patients, with overall diagnostic yield of 55.7%. Molecular findings are characterized in detail, including the impact of newly made diagnosis on clinical management. Several previously unreported genotype-phenotype correlations and 33 novel variants are described. Genetic and clinical data were shared through publicly available database. In conclusion, clinical exome sequencing allows identification of causative variants in a significant proportion of patients in investigated clinical subgroup. Compared to whole exome sequencing, it shows similar diagnostic and clinical utility with reduced costs, which could be of particular importance for institutions with limited resources.
引用
收藏
页码:116 / 131
页数:16
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