作者
Michelle L Thompson, Candice R Finnila, Kevin M Bowling, Kyle B Brothers, Matthew B Neu, Michelle D Amaral, Susan M Hiatt, Kelly M East, David E Gray, James MJ Lawlor, Whitley V Kelley, Edward J Lose, Carla A Rich, Shirley Simmons, Shawn E Levy, Richard M Myers, Gregory S Barsh, E Martina Bebin, Gregory M Cooper
发表日期
2018/12/1
期刊
Genetics in Medicine
卷号
20
期号
12
页码范围
1635-1643
出版商
Elsevier
简介
Purpose
Clinically relevant secondary variants were identified in parents enrolled with a child with developmental delay and intellectual disability.
Methods
Exome/genome sequencing and analysis of 789 “unaffected” parents was performed.
Results
Pathogenic/likely pathogenic variants were identified in 21 genes within 25 individuals (3.2%), with 11 (1.4%) participants harboring variation in a gene defined as clinically actionable by the American College of Medical Genetics and Genomics. These 25 individuals self-reported either relevant clinical diagnoses (5); relevant family history or symptoms (13); or no relevant family history, symptoms, or clinical diagnoses (7). A limited carrier screen was performed yielding 15 variants in 48 (6.1%) parents. Parents were also analyzed as mate pairs (n = 365) to identify cases in which both parents were carriers for the same recessive disease, yielding three such cases (0.8 …
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ML Thompson, CR Finnila, KM Bowling, KB Brothers… - Genetics in Medicine, 2018