BMPR1B mutation causes Pierre Robin sequence.

ABSTRACT:

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 disruptio

SUBMITTER: Yang Y 

PROVIDER: S-EPMC5432222 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature