Open AccessNovel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome
Author(s) -
Sapna Sandal,
Anupriya Kaur,
Inusha Panigrahi
Publication year - 2018
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2018-226165
Subject(s) - ehlers–danlos syndrome , connective tissue disorder , medicine , congenital disorder , exon , compound heterozygosity , mutation , genetics , gene , pathology , surgery , biology
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.