Research Papers: Chromosome:
BMPR1B mutation causes Pierre Robin sequence
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Yongjia Yang1,2,*, Jianying Yuan1,3,*, Xu Yao1, Rong Zhang1,4, Hui Yang1,4, Rui Zhao1, Jihong Guo1,5, Ke Jin1, Haibo Mei1, Yongqi Luo1, Liu Zhao1, Ming Tu1 and Yimin Zhu1,2
1 The Laboratory of Genetics and Metabolism, Hunan Children’s Research Institute , Hunan Children’s Hospital, University of South China, Changsha, China
2 Institute of Emergency Medicine, People’s Hospital of Hunan Province, Changsha, China
3 BGI-Shenzhen, Shenzhen, China
4 Division of Neonatology, Hunan Children’s Hospital, University of South China, Changsha, China
5 State Key Laboratory of Medical Genetics, Central South University, Changsha, China
* These authors have contributed equally to this work
Yimin Zhu, email:
Keywords: BMPR1B, Pierre Robin sequence, gene fusion, BMP signalling, cleft palate, Chromosome Section
Received: January 05, 2017 Accepted: February 27, 2017 Published: March 23, 2017
Background: We investigated a large family with Pierre Robin sequence (PRS).
Aim of the study: This study aims to determine the genetic cause of PRS.
Results: The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS.
Conclusion: We detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS.
Methods: GTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.
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