{"doi":"10.1136/bcr-2018-226165","title":"Novel mutation in the<i>CHST14</i>gene causing musculocontractural type of Ehlers-Danlos syndrome","abstract":"<jats:p>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 (<jats:italic>CHST14</jats:italic>) 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<jats:italic>CHST14</jats:italic>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.</jats:p>","journal":"BMJ Case Reports","year":2018,"id":643569,"datarank":0.3596842909197557,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"self_citation_contribution":0.3596842909197557,"citation_network_contribution":0.0,"self_endowment_contribution":0.3596842909197557,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":10,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":670857,"name":"Anupriya Kaur","orcid":"0000-0002-5307-5677","position":1,"is_corresponding":false},{"id":1557515,"name":"Inusha Panigrahi","orcid":"0000-0001-7375-9892","position":2,"is_corresponding":false},{"id":1674578,"name":"Sapna Sandal","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"Novel mutation in the<i>CHST14</i>gene causing musculocontractural type of Ehlers-Danlos syndrome","abstract":"<jats:p>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 (<jats:italic>CHST14</jats:italic>) 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<jats:italic>CHST14</jats:italic>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.</jats:p>","is_dataset_classified":null,"base_score":2.3978952727983707,"endowment":2.3978952727983707,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"30249733","pmcid":"PMC6157554","openalex_id":"https://openalex.org/W2893448726","authors":[],"funders":[],"total_grants":0,"fwci":1.0353,"citation_percentile":0.79839022,"influential_citations":0,"citation_trend":[{"year":2019,"count":1},{"year":2020,"count":2},{"year":2021,"count":3},{"year":2022,"count":2},{"year":2023,"count":1},{"year":2025,"count":1}],"oa_status":"green","license":null,"oa_locations":[{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6157554","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/6157554","host_type":"repository"},{"url":"https://syndication.highwire.org/content/doi/10.1136/bcr-2018-226165","host_type":"publisher"},{"url":"https://doi.org/10.1136/bcr-2018-226165","host_type":"journal"},{"url":"https://pubmed.ncbi.nlm.nih.gov/30249733","host_type":"repository"},{"url":"http://casereports.bmj.com/cgi/content/short/2018/sep22_1/bcr-2018-226165","host_type":"repository"}],"fields_of_study":["Connective tissue disorders research","Protein Tyrosine Phosphatases","Proteoglycans and glycosaminoglycans research","Child, Preschool","Codon, Nonsense","Ehlers-Danlos Syndrome","Genetic Markers","Homozygote","Humans","Male","Sulfotransferases","Ehlers-Danlos Syndrome, musculocontractural type 1"],"mesh_terms":["Child, Preschool","Ehlers-Danlos Syndrome","Genetic Markers","Homozygote","Humans","Male","Sulfotransferases","Codon, Nonsense"],"keywords":["Ehlers–Danlos syndrome","Connective Tissue Disorder","Medicine","Congenital disorder","Exon","Compound heterozygosity","Mutation","Genetics","Gene","Pathology","Surgery","Biology","Musculoskeletal And Joint Disorders","Developmental Paediatrocs"],"sdg_mappings":[],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[{"name":"omim"},{"name":"refseq"}],"source":"live","citation_network_status":"fetched"},"created_at":"2026-08-08T17:47:13.185031Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}