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Indian Pediatrics

, Volume 56, Issue 9, pp 792–794 | Cite as

Novel Nonsense Mutation in ASXL3 causing Bainbridge-Ropers Syndrome

  • Lingyan Qiao
  • Yusheng Liu
  • Juan Ge
  • Tang LiEmail author
Case Report
  • 1 Downloads

Abstract

Background

Bainbridge-Ropers syndrome is a rare autosomal dominant genetic disorder.

Case characteristics

A 26-day-old neonate presented with feeding difficulties, excessive sleeping, and hirsutism over forehead and lumbosacral skin.

Outcome

Whole-exome sequencing identified a novel nonsense mutation.

Message

We report a novel mutation in a Chinese neonate with Bainbridge-Ropers syndrome.

Keywords

Hypersomnia Mutation Whole-exome sequencing 

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Notes

Funding: None.

References

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Copyright information

© Indian Academy of Pediatrics 2019

Authors and Affiliations

  1. 1.Medical DepartmentQingdao UniversityQingdaoChina
  2. 2.Department of Pediatric Endocrinology and Genetic Metabolic DiseasesQingdao Women and Children’s HospitalQingdaoChina
  3. 3.Department of Pediatric SurgeryThe Affiliated Hospital of Qingdao UniversityQingdaoChina

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