Theunissen Tom E J, Sallevelt Suzanne C E H, Hellebrekers Debby M E I, de Koning Bart, Hendrickx Alexandra T M, van den Bosch Bianca J C, Kamps Rick, Schoonderwoerd Kees, Szklarczyk Radek, Mulder-Den Hartog Elvira N M, de Coo Irenaeus F M, Smeets Hubert J M
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.
Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
J Pediatr. 2017 Mar;182:371-374.e2. doi: 10.1016/j.jpeds.2016.12.032. Epub 2017 Jan 9.
Whole-exome sequencing identified multiple genetic causes in 2 infants with heterogeneous disease. Three gene defects in the first patient explained all symptoms, but manifestations were overlapping (blended phenotype). Two gene defects in the second patient explained nonoverlapping symptoms (composite phenotype). Whole-exome sequencing rapidly and comprehensively resolves heterogeneous genetic disease.
全外显子组测序在2名患有异质性疾病的婴儿中发现了多种遗传病因。第一名患者的三个基因缺陷解释了所有症状，但表现存在重叠（混合表型）。第二名患者的两个基因缺陷解释了不重叠的症状（复合表型）。全外显子组测序能快速、全面地解析异质性遗传疾病。
