Frontiers in Genetics (Feb 2020)
A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly
- Peiwen Xu,
- Peiwen Xu,
- Peiwen Xu,
- Ruirui Li,
- Ruirui Li,
- Ruirui Li,
- Sexin Huang,
- Sexin Huang,
- Sexin Huang,
- Menghan Sun,
- Jiaolong Liu,
- Jiaolong Liu,
- Jiaolong Liu,
- Yuping Niu,
- Yuping Niu,
- Yuping Niu,
- Yang Zou,
- Yang Zou,
- Yang Zou,
- Jie Li,
- Jie Li,
- Jie Li,
- Ming Gao,
- Ming Gao,
- Ming Gao,
- Xiaolei Li,
- Xiaolei Li,
- Xiaolei Li,
- Xuan Gao,
- Xuan Gao,
- Xuan Gao,
- Yuan Gao,
- Yuan Gao,
- Yuan Gao
Affiliations
- Peiwen Xu
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Peiwen Xu
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Peiwen Xu
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Ruirui Li
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Ruirui Li
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Ruirui Li
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Sexin Huang
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Sexin Huang
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Sexin Huang
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Menghan Sun
- School of Biological Science, University of California, Irvine, Irvine, CA, United States
- Jiaolong Liu
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Jiaolong Liu
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Jiaolong Liu
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Yuping Niu
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Yuping Niu
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Yuping Niu
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Yang Zou
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Yang Zou
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Yang Zou
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Jie Li
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Jie Li
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Jie Li
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Ming Gao
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Ming Gao
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Ming Gao
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Xiaolei Li
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Xiaolei Li
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Xiaolei Li
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Xuan Gao
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Xuan Gao
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Xuan Gao
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- Yuan Gao
- Center for Reproductive Medicine, Shandong University, Jinan, China
- Yuan Gao
- National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China
- Yuan Gao
- The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China
- DOI
- https://doi.org/10.3389/fgene.2020.00143
- Journal volume & issue
-
Vol. 11
Abstract
Congenital contractural arachnodactyly (CCA) is an extremely rare monogenic disorder in humans, and the prevalence of CCA is estimated to be less than 1 in 10,000 worldwide. CCA is characterized by arachnodactyly, camptodactyly, the contracture of major joints, scoliosis, pectus deformities, and crumpled ears. Mutations in FBN2 (which encodes fibrillin-2) are responsible for causing this disease. A family with CCA was investigated in this study, and a novel variant, c.3724+3A > C (also identified as IVS28+3A > C), in FBN2 was found in nine patients from the family but was not found in seven unaffected relatives. Reverse transcription-PCR (RT-PCR) and complementary DNA (cDNA) sequencing data showed that exon 28 was skipped in the FBN2 gene. The FBN2 c.3724+3A > C variant led to an in-frame deletion during transcription, which eventually triggered CCA in the Chinese family.
Keywords
- congenital contractural arachnodactyly
- FBN2 gene
- novel splice mutation
- in-frame deletion
- whole exome sequencing
