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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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| Published in: | Pediatric dermatology 2024-11, Vol.41 (6), p.1170-1173 |
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| Main Authors: | , , , , , |
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| Language: | English |
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| container_end_page | 1173 |
| container_issue | 6 |
| container_start_page | 1170 |
| container_title | Pediatric dermatology |
| container_volume | 41 |
| creator | KS, Aswanth Sarkar, Namrata Bhatia, Riti Singh, Vivek Sharma, Shruti Verma, Prashant Kumar |
| description | 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. |
| doi_str_mv | 10.1111/pde.15653 |
| format | article |
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Sarkar, Namrata ; Bhatia, Riti ; Singh, Vivek ; Sharma, Shruti ; Verma, Prashant Kumar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2433-a523e2cfe3722c5b56507043243c1112212accbbf771531149b345d2fe59dcb33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Arthrogryposis</topic><topic>carbohydrate sulfotransferase</topic><topic>Carbohydrate Sulfotransferases</topic><topic>Child</topic><topic>Craniofacial syndromes</topic><topic>Ehlers-Danlos syndrome</topic><topic>Ehlers-Danlos Syndrome - diagnosis</topic><topic>Ehlers-Danlos Syndrome - genetics</topic><topic>Exome Sequencing</topic><topic>Female</topic><topic>Humans</topic><topic>India</topic><topic>Male</topic><topic>Mutation</topic><topic>Siblings</topic><topic>Sulfotransferase</topic><topic>Sulfotransferases - genetics</topic><topic>Whole genome sequencing</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>KS, Aswanth</creatorcontrib><creatorcontrib>Sarkar, Namrata</creatorcontrib><creatorcontrib>Bhatia, Riti</creatorcontrib><creatorcontrib>Singh, Vivek</creatorcontrib><creatorcontrib>Sharma, Shruti</creatorcontrib><creatorcontrib>Verma, Prashant Kumar</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Pediatric dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>KS, Aswanth</au><au>Sarkar, Namrata</au><au>Bhatia, Riti</au><au>Singh, Vivek</au><au>Sharma, Shruti</au><au>Verma, Prashant Kumar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Musculocontractural type of Ehlers–Danlos syndrome with novel CHST14 pathogenic variant in two siblings</atitle><jtitle>Pediatric dermatology</jtitle><addtitle>Pediatr Dermatol</addtitle><date>2024-11</date><risdate>2024</risdate><volume>41</volume><issue>6</issue><spage>1170</spage><epage>1173</epage><pages>1170-1173</pages><issn>0736-8046</issn><issn>1525-1470</issn><eissn>1525-1470</eissn><abstract>Musculocontractural Ehlers–Danlos syndrome (MC‐EDS) is a rare entity worldwide with underlying pathogenic variant in the carbohydrate sulfotransferase 14 (CHST14) gene. 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| identifier | ISSN: 0736-8046 |
| ispartof | Pediatric dermatology, 2024-11, Vol.41 (6), p.1170-1173 |
| issn | 0736-8046 1525-1470 1525-1470 |
| language | eng |
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| source | Wiley-Blackwell Read & Publish Collection |
| 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 |
| title | Musculocontractural type of Ehlers–Danlos syndrome with novel CHST14 pathogenic variant in two siblings |
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