National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240.
Since the discovery of the first gene causing holoprosencephaly (HPE), over 500 patients with mutations in genes associated with non-chromosomal, non-syndromic HPE have been described, with detailed descriptions available in over 300. Comprehensive clinical analysis of these individuals allows examination for the presence of genotype-phenotype correlations. These correlations allow a degree of differentiation between patients with mutations in different HPE-associated genes and for the application of functional studies to determine intragenic correlations. These early correlations are an important advance in the understanding of the clinical aspects of this disease, and in general argue for continued analysis of the genetic and clinical findings of large cohorts of patients with rare diseases in order to better inform both basic biological insight and care and counseling for affected patients and families.
自发现首个导致全前脑畸形（HPE）的基因以来，已有超过 500 名患者被描述为与非染色体、非综合征性 HPE 相关基因突变，其中超过 300 名患者的详细描述可用。对这些个体进行全面的临床分析可检查是否存在基因型-表型相关性。这些相关性允许在不同 HPE 相关基因突变的患者之间进行一定程度的区分，并可应用功能研究来确定基因内相关性。这些早期相关性是理解该疾病临床方面的重要进展，通常主张对患有罕见疾病的大量患者的遗传和临床发现进行持续分析，以便更好地为受影响的患者及其家属提供基本的生物学见解和护理及咨询。
