Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome  

作　　者：Carolyn S Kaufman Merlin G Butler Carolyn S Kaufman;Merlin G Butler(Department of Psychiatry,Behavioral Sciences and Pediatrics, University of Kansas Medical Center)

机构地区：[1]Department of Psychiatry,Behavioral Sciences and Pediatrics,University of Kansas Medical Center,Kansas City,KS 66160,United States

出　　处：《World Journal of Medical Genetics》2016年第2期17-21,共5页世界医学遗传学杂志

基　　金：Supported by The National Institute of Child Health and Human Development(NICHD),No.HD02528

摘　　要：We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud’s phenomenon, and hypermobility. She was found to have a 6074A 〉 T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025Val classifed as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as disease-causing. This gene variant was reported previously in a different 36-year-old patient who shared our patient’s symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome （EDS）. At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X defciency, but the variant identifed in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074A 〉 T nucleotide transition in the TNXB gene may be classifed as disease-causing for EDS due to tenascin-X defciency.We report a 28-year-old female who presented with severe joint pain, chronic muscle weakness, Raynaud's phenomenon, and hypermobility. She was found to have a 6074 A > T nucleotide transition in the TNXB gene causing an amino acid protein change at Asp2025 Val classified as likely pathogenic. We add this clinical report to the literature and classical human disease gene catalogs to identify this specific mutation as diseasecausing. This gene variant was reported previously in a different 36-year-old patient who shared our patient's symptoms of joint hypermobility, skeletal and joint pain, skin elasticity and musculoskeletal problems, thereby causing a more severe presentation than seen in the hypermobility type of Ehlers-Danlos syndrome(EDS). At the time of writing, a few mutations in the TNXB gene have been recognized as pathogenic causing EDS due to tenascin-X deficiency, but the variant identified in our patient has not been recognized as pathogenic in online genetic databases. Our case study in combination with peer-reviewed literature suggests that the 6074 A > T nucleotide transition in the TNXB gene may be classified as disease-causing for EDS due to tenascin-X deficiency.

关 键 词：Ehlers-Danlos syndrome Genetic variants MUTATIONS HYPERMOBILITY Joint pain Muscle weakness Raynaud’s phenomenon TENASCIN-X TNXB Ehlers-Danlos syndrome due to tenascin-X defciency 

分 类 号：R1[医药卫生—公共卫生与预防医学]