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Rare disease
CASE REPORT
Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome
  1. Sapna Sandal1,
  2. Anupriya Kaur2,
  3. Inusha Panigrahi3
  1. 1Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India
  2. 2Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India
  3. 3Department of Pediatrics, Advanced Paediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India
  1. Correspondence to Dr Anupriya Kaur, anukaur.genetics{at}gmail.com

Summary

Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 (CHST14) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder.

  • musculoskeletal and joint disorders
  • genetics
  • developmental paediatrocs

https://doi.org/10.1136/bcr-2018-226165

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    Footnotes

    • Contributors All authors contributed to conception and design; drafted the manuscript; critically revised the manuscript; gave final approval; agreed to be accountable for all aspects of work ensuring integrity and accuracy.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.