Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

Sapna Sandal; Anupriya Kaur; Inusha Panigrahi

doi:10.1136/bcr-2018-226165

Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome

BMJ Case Rep. 2018 Sep 23:2018:bcr2018226165. doi: 10.1136/bcr-2018-226165.

Authors

Sapna Sandal¹, Anupriya Kaur², Inusha Panigrahi³

Affiliations

¹ Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
² Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
³ Department of Pediatrics, Advanced Paediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.

Abstract

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.

Keywords: developmental paediatrocs; genetics; musculoskeletal and joint disorders.

Publication types

Case Reports

MeSH terms

Child, Preschool
Codon, Nonsense*
Ehlers-Danlos Syndrome / diagnosis*
Ehlers-Danlos Syndrome / genetics
Genetic Markers
Homozygote
Humans
Male
Sulfotransferases / genetics*

Substances

Codon, Nonsense
Genetic Markers
Sulfotransferases
dermatan-4-sulfotransferase-1

Supplementary concepts

Ehlers-Danlos Syndrome, musculocontractural type 1