Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes
AIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.<p>METHODS: We recruited a Chinese family with aniridia and gestational diabetes. Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes....
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Press of International Journal of Ophthalmology (IJO PRESS)
2019-08-01
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| Series: | Guoji Yanke Zazhi |
| Subjects: | |
| Online Access: | http://ies.ijo.cn/cn_publish/2019/9/201909002.pdf |
| _version_ | 1818433525180792832 |
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| author | Shi-Qi Dong Su-Fang Dong Chen Qiao Bo Hu Fang Zheng Ming Yan |
| author_facet | Shi-Qi Dong Su-Fang Dong Chen Qiao Bo Hu Fang Zheng Ming Yan |
| author_sort | Shi-Qi Dong |
| collection | DOAJ |
| description | AIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.<p>METHODS: We recruited a Chinese family with aniridia and gestational diabetes. Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes. Encoding regions of the paired box 6(PAX6)gene was screened by PCR direct sequencing. Amniocentesis was carried out on the affected female at 18wk of gestation, and subsequently, genetics analysis was performed based on the result of mutation screening.<p>RESULTS: In this study, the patients with aniridia and congenital cataract carried a heterozygous deletion mutation(c.113_129del GGCCGTGCGACATTTCC, p.Arg38ProfsTer12)in exon 5 of PAX6. One of the patients was affected with diabetes while this lady also had gestational diabetes. The result of prenatal diagnosis suggested the fetus carried the same mutation and will be affected with the aniridia, which was confirmed by postpartum follow-up.<p>CONCLUSION: It was suggested that a reported deletion mutation in the PAX6 was identified again in a Chinese family with aniridia and congenital cataract. It contributed to more literature information for the human PAX6 allelic variant database and provided an analysis basis for prenatal diagnosis. |
| first_indexed | 2024-12-14T16:22:29Z |
| format | Article |
| id | doaj.art-9e88062f855542aa83091cc14f5037fb |
| institution | Directory Open Access Journal |
| issn | 1672-5123 1672-5123 |
| language | English |
| last_indexed | 2024-12-14T16:22:29Z |
| publishDate | 2019-08-01 |
| publisher | Press of International Journal of Ophthalmology (IJO PRESS) |
| record_format | Article |
| series | Guoji Yanke Zazhi |
| spelling | doaj.art-9e88062f855542aa83091cc14f5037fb2022-12-21T22:54:46ZengPress of International Journal of Ophthalmology (IJO PRESS)Guoji Yanke Zazhi1672-51231672-51232019-08-011991457146110.3980/j.issn.1672-5123.2019.9.02Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetesShi-Qi Dong0Su-Fang Dong1Chen Qiao2Bo Hu3Fang Zheng4Ming Yan5Department of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei Province, ChinaSchool of Tropical Medicine & Laboratory Science, Hainan Medical University, Haikou 571199, Hainan Province, ChinaWuhan Aier Ophthalmology Hankou Hospital, Wuhan 430000, Hubei Province, ChinaDepartment of Laboratory Medicine, the Third Affiliated Hospital of Sun Yat-sen University, Guangzhou 510630, Guangdong Province, ChinaCenter for Gene Diagnosis, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei Province, ChinaDepartment of Ophthalmology, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei Province, ChinaAIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.<p>METHODS: We recruited a Chinese family with aniridia and gestational diabetes. Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes. Encoding regions of the paired box 6(PAX6)gene was screened by PCR direct sequencing. Amniocentesis was carried out on the affected female at 18wk of gestation, and subsequently, genetics analysis was performed based on the result of mutation screening.<p>RESULTS: In this study, the patients with aniridia and congenital cataract carried a heterozygous deletion mutation(c.113_129del GGCCGTGCGACATTTCC, p.Arg38ProfsTer12)in exon 5 of PAX6. One of the patients was affected with diabetes while this lady also had gestational diabetes. The result of prenatal diagnosis suggested the fetus carried the same mutation and will be affected with the aniridia, which was confirmed by postpartum follow-up.<p>CONCLUSION: It was suggested that a reported deletion mutation in the PAX6 was identified again in a Chinese family with aniridia and congenital cataract. It contributed to more literature information for the human PAX6 allelic variant database and provided an analysis basis for prenatal diagnosis.http://ies.ijo.cn/cn_publish/2019/9/201909002.pdfaniridiamutationPAX6prenatal diagnosis |
| spellingShingle | Shi-Qi Dong Su-Fang Dong Chen Qiao Bo Hu Fang Zheng Ming Yan Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes Guoji Yanke Zazhi aniridia mutation PAX6 prenatal diagnosis |
| title | Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes |
| title_full | Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes |
| title_fullStr | Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes |
| title_full_unstemmed | Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes |
| title_short | Mutation identification of PAX6 and prenatal diagnosis in a Chinese family with Aniridia and gestational diabetes |
| title_sort | mutation identification of pax6 and prenatal diagnosis in a chinese family with aniridia and gestational diabetes |
| topic | aniridia mutation PAX6 prenatal diagnosis |
| url | http://ies.ijo.cn/cn_publish/2019/9/201909002.pdf |
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