Mutational analysis of GSC, HOXA2 and PRKRA in 106 Chinese patients with microtia

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• 作者：Shaojuan Hao^a ; ^{haoshaojuan666@163.com} ; Lei Jin^b ; Chenlong Li^b ; Huijun Wang^c ; Fengyun Zheng^c ; Duan Ma^c ; ^d ; Tianyu Zhang^b ; ^{ty.zhang2006@aliyun.com}
• 关键词：Microtia ; GSC gene ; HOXA2 gene ; PRKRA gene ; Chinese
• 刊名：International Journal of Pediatric Otorhinolaryngology
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：93
• 期：Complete
• 页码：78-82
• 全文大小：778 K
• 卷排序：93

文摘

Microtia is defined as a developmental malformation characterized by a small, abnormal shaped auricle, with atresia or stenosis of the auditory canal. Genes responsible for nonsyndromic microtia have remained elusive. We therefore report a mutational analysis of GSC, HOXA2 and PRKRA in 106 congenital microtia patients without any combined malformation to explore the relationship between GSC, HOXA2, PRKRA and nonsyndromic microtia.MethodsA total of 106 patients with a clinical diagnosis of congenital microtia and a control group (100 unaffected controls) were recruited through the Eye and ENT Hospital of Fudan University in China. Genomic DNA was extracted following a standard protocol. DNA sequencing analysis was performed in all exons and the exon-intron borders of GSC, HOXA2 and PRKRA.ResultsWe identified 5 genomic variants in GSC, HOXA2 and PRKRA. As to the GSC, we obtained a reported variant g.994C > T in exon 2, which resulted in no change of protein. Our results revealed that g.994C > T was also detected in 10 control cases. We also detected 2 novel variants, g.90G > A and g.114A > C, in the 5′UTR of HOXA2. No class 5 or 4 genomic variant of PRKRA was identified in our microtia patients. Additionally, two previously reported SNVs in GSC and PRKRA were also presented.ConclusionsWe suggest that g.994C > T is a new SNV, which is different from the previous report. Further study is needed to prove the function of 2 novel variants in the 5′UTR of HOXA2, and to explore the possible mechanism of these variants in the occurrence of microtia.