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BMPR1B mutation causes Pierre Robin sequence.

Yongjia Yang1,2, Jianying Yuan1,3, Xu Yao1

  • 1The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute , Hunan Children's Hospital, University of South China, Changsha, China.

Oncotarget
|April 19, 2017
PubMed
Summary

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This summary is machine-generated.

Genetic mutations in BMPR1B are likely causes of Pierre Robin sequence (PRS). This study identified two BMPR1B mutations in unrelated families with PRS, revealing a potential genetic link.

Area of Science:

  • Genetics
  • Developmental Biology

Background:

  • Pierre Robin sequence (PRS) is a complex congenital condition.
  • Investigated a large family exhibiting PRS to uncover its genetic underpinnings.

Purpose of the Study:

  • Determine the genetic etiology of Pierre Robin sequence (PRS).

Main Methods:

  • Utilized GTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing.
  • Identified chromosomal breakpoints and intragenic mutations.

Main Results:

  • A reciprocal translocation t(4;6)(q22;p21) segregated with PRS in a three-generation family.
  • Detected breakpoints within BMRP1B and GRM4, suggesting haploinsufficiency or a gain-of-function mechanism.
  • Identified a BMPR1B-splicing mutation in an unrelated PRS family.
Keywords:
BMP signallingBMPR1BChromosome SectionPierre Robin sequencecleft palategene fusion

Related Experiment Videos

Conclusions:

  • Disruption of BMPR1B is implicated as a cause of human PRS.
  • Two distinct BMPR1B mutations were identified in unrelated PRS families.