■早期的研究表明,小耳畸形是一种遗传性疾病,其全球发病率在0.83/10,000和17.40/10,000之间。对于microtia,耳廓形态是最关键的特征。然而,尚未进行研究来表征小耳和耳廓形态相似性的遗传相似性。对于散发性患者,父母的胎龄与小耳畸形发生率之间的关系尚不清楚。获得耳廓畸形多例家系(AD-MCF)的特征,阐明AD-MCF中遗传相似性与耳廓形态相似性的关系。
■这项研究纳入了由孙逸仙纪念医院诊断的463名AD患者,中山大学,从2013年到2019年。在这些患者中,116名来自43MCF,其他347名患者是散发性的。对于来自家庭的患者来说,收集四代直系亲属的疾病状况和家谱图,分析家庭成员耳廓形状的相似性。评分根据残耳的结构和每个耳廓的形态相似性来评估耳廓形状的相似性。此外,进一步分析AD的人群分布和患者的胎龄。
■2013年至2019年,我院共有463例患者被诊断为小耳畸形。单侧疾病427例,双侧疾病36例。其中,116例患者来自34个家庭和9个从头家庭。不同遗传差异水平患者的总分进行比较,发现差异有统计学意义(P<0.001)。此外,58.14%的家庭符合染色体隐性遗传病的规律。重要的是,我们发现,从头小生家庭的父亲的胎龄为30.94±0.75,从头母亲为28.39±0.73,明显高于从头小生家庭的父母的胎龄,P值=0.0001。
■家族成员之间的耳廓相似性与家族成员之间的遗传距离呈正相关。小耳畸形患者可能与父母的胎龄有关。
UNASSIGNED: Earlier studies have suggested that microtia is a genetic disease with a worldwide incidence of microtia is between 0.83/10,000 and 17.40/10,000. For microtia, auricle morphology is the most crucial characteristic. However, no studies have been performed to characterize the genetic similarity of microtia and auricle morphology similarity. For the sporadic patients, the relationship between the gestational age of parents and the incidence of microtia is unclear. To obtain the characteristics of auricular deformity multiple
case family (AD-MCF) and clarify the relationship between genetic similarity and auricle morphology similarity in AD-MCF.
UNASSIGNED: This study included 463 AD patients who were diagnosed by Sun Yat-sen Memorial Hospital, Sun Yat-sen University, from 2013 to 2019. Among these patients, 116 are from 43 MCF and the other 347 patients are sporadic. For the patients from families, the disease status of the four generations of immediate family members and the family tree map were collected to analyze the similarity of auricle shape in family members. A score evaluated the similarity of auricle shape according to the structure of the residual ear and the similarity in the morphology of each auricle. Moreover, the population distribution of AD and the gestational age of patients were further analyzed.
UNASSIGNED: From 2013 to 2019, a total of 463 patients were diagnosed as microtia in our hospital. There were 427 patients with unilateral disease and 36 patients with bilateral disease. Among them, 116 patients were from 34 families and 9 de novo families. The total scores of patients in different genetic difference levels were compared and were found significantly different (P<0.001). Moreover, 58.14% of families were consistent with the law of chromosomal recessive genetic diseases. Importantly, we found that the gestational age of father in microtia de novo families is 30.94±0.75, and mother in de novo is 28.39±0.73 that is significantly higher than the gestational ages of parents from microtia families with P value =0.0001.
UNASSIGNED: The auricle similarity between family members is positively related to the genetic distance between family members. The microtia patients are potentially associated with the gestational ages of parents.