The genetics of congenital prosopagnosia

先天性面孔失认症指的是尽管视力、智力和其他认知能力正常，但面部识别能力受损。有相当多的证据表明，面孔失认症是一种可遗传的特征，因为它似乎在家庭中更常见。然而，潜在的遗传因素和可能参与这种表型的精确分子机制仍然难以捉摸。为了解决这个问题，目前的项目是建立调查潜在的遗传机制的面孔失认症。在一个跨学科的方法，一个独特的和良好表征的患者队列将建立和研究使用全外显子组测序。在此方法中确定的候选基因将进一步验证。识别导致面孔失认症的基因缺陷将有助于临床和分子遗传学诊断。此外，对面孔失认症亚型进行更精确的分类，从而改善患者的护理和治疗。

Congenital prosopagnosia refers to the impairment in face recognition despite normal vision, intelligence, and other cognitive skills. There is considerable evidence to suggest that prosopagnosia is a heritable trait, because it seems to be more common within families. However, the underlying genetic factors and the precise molecular mechanisms that could be involved in this phenotype remain elusive. In order to address this issue the current project is set up to investigate the underlying genetic mechanisms of prosopagnosia. In an interdisciplinary approach a unique and well characterized patient cohort will be established and studied using whole exome sequencing. Candidate genes identified in this approach will be further validated. The identification of gene defects that causes prosopagnosia would facilitate clinical and molecular genetic diagnoses. Additionally, a more precise classification of prosopagnosia subtypes would be expected, thus leading to an improved patient care and therapy.