Whole-Exome Sequencing Identified a TBX6 Loss of Function Mutation in a Patient with Distal Vaginal Atresia
| Autor: | Dan Lu, Lin Li, Li-Jing Luo, Chunfang Chu, Shenghui Li, Ai-hong Duan, Chenghong Yin |
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| Rok vydání: | 2019 |
| Předmět: |
China
Adolescent Locus (genetics) Bioinformatics medicine.disease_cause Congenital Abnormalities 03 medical and health sciences symbols.namesake 0302 clinical medicine Obstetrics and gynaecology Loss of Function Mutation Exome Sequencing medicine Humans 030212 general & internal medicine Exome sequencing Retrospective Studies Sanger sequencing Mutation 030219 obstetrics & reproductive medicine business.industry Infant Obstetrics and Gynecology General Medicine medicine.disease Müllerian agenesis medicine.anatomical_structure Vaginal atresia Vagina Pediatrics Perinatology and Child Health symbols Female T-Box Domain Proteins business |
| Zdroj: | Journal of Pediatric and Adolescent Gynecology. 32:550-554 |
| ISSN: | 1083-3188 |
| DOI: | 10.1016/j.jpag.2019.06.006 |
| Popis: | Study Objective The purpose of this study was to determine if there are any genetic changes with whole-exome sequencing associated with distal vaginal atresia. Design This was a retrospective genetics study of 5 patients who presented with distal vaginal atresia who were recruited between 2017 and 2018. Whole-exome sequencing was performed in each subject with distal vaginal atresia. Sanger sequencing was used to confirm the potential causative genetic mutation. Setting Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Participants and Main Outcome Measures The main outcome measure was the rare mutations potentially associated with distal vaginal atresia in 5 patients. Results A truncating mutation c.266delC (p.P89Rfs*5) in the T-box transcription factor 6 (TBX6) gene, which is highly expressed in the human vagina, was identified in 1 patient using whole-exome sequencing. The deletion of the 16p11.2 region containing the TBX6 locus has also been reported previously to have the clinical feature of Mullerian agenesis. This mutation was paternally inherited by the patient. This truncating mutation was absent from all of the databases we checked, suggesting that the variant is rare and pathogenic. Conclusion We showed, to our knowledge, for the first time, that the mutation in TBX6 might be associated with human distal vaginal atresia. |
| Databáze: | OpenAIRE |
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