| Objective:To explored the clinical features of a single clinic population of 208 Chinese individuals with oculo-auriculo-vertebral spectrum, and made a comparison against those of previous studies; To investigate the possible risk factors during maternal pregancy of OAVS patients; To analyse inheritable factors of 124 OAVS cases collected, sequence exons of MSX1 gene and MSX2 gene; In our project, we want to accelerate the advancement of the etiology in this syndrome with molecular method and clinical research.Methods:We evaluated clinical data of 208 patients who were admitted between September 2007 and July 2009 for auricle reconstruction or hearing problem in Department of Otorhinolaryngology, Eye and ENT Hospital of Fudan University. They presented either microtia or preauricular tags with hemifacial microsomia. In addition, the subjects whose relatives had microtia or preauricular tags/sinuses were categorized as familial microtia. For a comparative analysis, we defined bilateral involvement as such signs as microtia or preauricular tags/sinuses presenting on both sides. We compared 10 major clinical features of 208 patients with 16 researches. Meanwhile, a case-control study was carried out in 118 OAVS patients between 3-14 years old and 118 controls of the same age. Detailed questionnaires concerning the maternal conditions during pregnancy were filled out by patients'mothers and the frequencies of 16 relative factors (fertility in advanced age, history of natural abortion, history of threatened abortion, virus infection and drug using during the first trimester of pregnancy, etal.) were counted and the variables were statistically analyzed using Chi Square and Logistic regression. In addition, the peripheral blood of 124 OAVS cases were collected, from which, genome DNA was extracted. Primers of exons of MSX1 gene and MSX2 gene were designed, and then sequenced after PCR amplification.Results:1. The age of 208 patients ranged from 3 months to 31 years, when 69.7% of them were male. Of 208 patients,186 were sporadic and 21 carried a family history.65.4% of the patients were unilaterally affected and when regarding the laterality,56.6% of the unilaterally affected ears were right-sided. A total of 205 (98.6%) out of 208 patients occurred with Aural atresia or stenosis. Only 14.40% of the cases presented preauricular tags/sinuses when 28.4% of the cases suffered from hemifacial microsomia. Furthermore,4.3% of the patients had eye defects including epibulbar lipoma (3/9), nystagmus (2/9) and tropia (4/9). Only 2 cases were diagnosed as cervical scoliosis, and 1 case, as congenital ventricular septal defects. Except for the percentage of aural atresia or stenosis, which was higher than any other ratios reporte, the rest of our results were similar to those of previous studies.2. Four maternal factors showed significant differences between patients and controls, which were virus infection, drug using, anemia, and exposure to teratogenic agent during the first trimester of pregnancy (P<0.05).3. Synonymity mutation of G>GT occurred on 3473bp in the second exon of MSX1 gene in one case and amino acid is still leucine. Besides, we found 6 SNPs which were already reported.Conclusion:The clinical features of 208 Chinese individuals with oculo-auriculo-vertebral spectrum in this study were similar to those of previous studies. Virus infection, drug using, anemia, and exposure to teratogenic agent during the first trimester of pregnancy may be etiologically related to parts of the cases. OAVS was not likely to be caused by exon mutation of MSX1 gene or that of MSX2 gene. However, further investigation needs to be done to find possible genetics mutations in familal cases. |
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