Department of Ear Reconstruction Center, Plastic Surgery Hospital, Chinese Academy of Medical Science, Peking Union Medical College, Shijingshan District, Beijing, China.
Plast Reconstr Surg. 2010 Mar;125(3):979-87. doi: 10.1097/PRS.0b013e3181ccdbba.
Microtia can be defined as a malformation of the auricle; the varying severity that results can range from mild distortion of the anatomic landmarks to the complete absence of the ear. No specific study has been reported analyzing a family of several generations with bilateral congenital concha-type microtia so far.
The authors obtained medical records and blood samples from a Chinese family with bilateral congenital concha-type microtia that involved 56 members of five generations. There were 20 patients with bilateral congenital concha-type microtia in this pedigree, and 14 patients were still alive. Pedigree analysis and genetic study were carried out to obtain the information in this family.
With regard to pedigree, 35.7 percent of the members of this family were affected by bilateral congenital concha-type microtia and showed the possibility of autosomal dominant inheritance model. Missense mutation A deletion on site 76234730 in goosecoid gene exon 3 occurred in eight cases in the family, which resulted in a frame shift mutation.
The goosecoid gene mutation in exon 3 may be involved in the malformation events in this family. The mutation can be accompanied by potential environmental risk factors, such as exposure to poison and hazardous materials, alcohol abuse, and disease during the mother's pregnancy. Further study is needed to clarify the relationship between the genetic and environmental factors associated with the congenital malformation.
小耳畸形可定义为耳廓的畸形；其严重程度从解剖标志的轻度扭曲到耳朵完全缺失不等。迄今为止，尚无关于分析几代人双侧先天性贝壳型小耳畸形家族的特定研究报告。
作者从一个涉及五代 56 名成员的双侧先天性贝壳型小耳畸形的中国家庭中获得了病历和血样。该家系中有 20 名双侧先天性贝壳型小耳畸形患者，其中 14 名仍存活。进行了家系分析和遗传研究以获取该家系的信息。
就系谱而言，该家族 35.7%的成员受到双侧先天性贝壳型小耳畸形的影响，并表现出自体显性遗传模型的可能性。鹅形基因外显子 3 位 76234730 点的 A 缺失突变发生在该家系的 8 例中，导致移码突变。
外显子 3 中的 goosecoid 基因突变可能与该家族的畸形事件有关。该突变可能伴有潜在的环境危险因素，如接触毒物和有害物质、酗酒以及母亲怀孕期间患病。需要进一步研究阐明与先天性畸形相关的遗传和环境因素之间的关系。
