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

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.

SUBMITTER: Sandal S 

PROVIDER: S-EPMC6157554 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature