HOMOZYGOUS CHST14 MUTATION IN AN ADOLESCENT GIRL WITH MUSCULOCONTRACTURAL EHLERS-DANLOS SYNDROME: A FIRST REPORT IN THAILAND
DOI:
https://doi.org/10.55374/jseamed.v9.225Keywords:
Musculocontractural EDS, CHST14, Ehler Danlos SyndromeAbstract
Musculocontractural Ehlers-Danlos Syndrome (mcEDS) is a rare subtype of EDS, recognized as a multisystem congenital malformation characterized by multiple congenital contractures, distinctive craniofacial features, and characteristic skin manifestations. Most mcEDS is caused by biallelic loss-of-function mutations in the carbohydrate sulfotransferase 14 (CHST14) gene. This study reports a 15-year-old girl with classical clinical features of mcEDS who was first presented at Phramongkutklao Hospital in Thailand. The whole exome sequencing identified a homozygous frameshift, c.1033dup or p. Arg345ProfsTer10, mutation in exon 1 of the CHST14 gene. Sanger sequencing verified that this mutation was inherited from second-degree consanguineous parents. This study is the first to establish this frameshift mutation as a pathogenic mutation, thereby contributing to the literature on the CHST14 gene and enhancing our understanding of this rare condition. Our patient represents the first reported case of mcEDS in Thailand.
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