Musculocontractural type of Ehlers–Danlos syndrome with novel CHST14 pathogenic variant in two siblings

Musculocontractural Ehlers–Danlos syndrome (MC‐EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian f...

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Bibliographic Details
Published in:Pediatric dermatology 2024-11, Vol.41 (6), p.1170-1173
Main Authors: KS, Aswanth, Sarkar, Namrata, Bhatia, Riti, Singh, Vivek, Sharma, Shruti, Verma, Prashant Kumar
Format: Article
Language:English
Subjects:
Arthrogryposis
carbohydrate sulfotransferase
Carbohydrate Sulfotransferases
Child
Craniofacial syndromes
Ehlers-Danlos syndrome
Ehlers-Danlos Syndrome - diagnosis
Ehlers-Danlos Syndrome - genetics
Exome Sequencing
Female
Humans
India
Male
Mutation
Siblings
Sulfotransferase
Sulfotransferases - genetics
Whole genome sequencing
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Description
Summary:Musculocontractural Ehlers–Danlos syndrome (MC‐EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. Previous reports of the same entity from India were of two unrelated cases. Ours is the first report of two siblings in an Indian family with craniofacial dysmorphism and distal arthrogryposis with a clinical diagnosis of EDS, where an underlying pathogenic variant in CHST14 was detected by exome sequencing.
ISSN:0736-8046
1525-1470
1525-1470
DOI:10.1111/pde.15653