The genetics of congenital prosopagnosia

先天性面容失认症是指尽管视力、智力和其他认知技能正常，但面孔识别能力受损。有相当多的证据表明，面容失认症是一种遗传特征，因为它似乎更常见于家庭。然而，潜在的遗传因素和精确的分子机制，可能参与这种表型仍然难以捉摸。为了解决这一问题，本项目旨在研究面容失认症的潜在遗传机制。在跨学科的方法中，将使用全外显子组测序建立和研究独特且充分表征的患者队列。在这种方法中确定的候选基因将进一步验证。识别导致面容失认症的基因缺陷将有助于临床和分子遗传学诊断。此外，一个更精确的分类面容失认亚型将是预期的，从而导致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.