Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, UCSF Benioff Children's Hospital, San Francisco, CA, USA.
Am J Med Genet C Semin Med Genet. 2013 Aug;163C(3):206-11. doi: 10.1002/ajmg.c.31371. Epub 2013 Jul 10.
Noncompaction/hypertrabeculation is increasingly being recognized in children and adults, yet we understand little about the causes of disease. Genes associated with noncompaction/hypertrabeculation have been identified, but how can these assist in clinical management? Genomic technologies have also expanded tremendously, making testing more comprehensive, but they also present new questions given the tremendous diversity of phenotypes and variability of genomes. Here we present genetic evaluation strategies and assess clinical testing options for noncompaction/hypertrabeculation. We assess genes/gene panels offered by clinical laboratories and the potential for high-throughput sequencing to fuel further discovery. We discuss challenges in cardiovascular genetics, such as interpretation of genomic variants, prediction and disease penetrance.
非致密/心肌肥厚症在儿童和成人中越来越被认识，但我们对病因知之甚少。已经确定了与非致密/心肌肥厚症相关的基因，但这些基因如何帮助临床管理？基因组技术也有了巨大的发展，使测试更加全面，但鉴于表型的巨大多样性和基因组的可变性，也提出了新的问题。在这里，我们提出了非致密/心肌肥厚症的遗传评估策略，并评估了临床检测选择。我们评估了临床实验室提供的基因/基因组合以及高通量测序的潜力，以推动进一步的发现。我们讨论了心血管遗传学中的挑战，如基因组变异的解释、预测和疾病外显率。
