دورية أكاديمية
Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series.
| العنوان: | Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series. |
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| المؤلفون: | Tassanakijpanich N; Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Hat Yai, Thailand.; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., McKenzie FJ; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., McLennan YA; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Makhoul E; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Tassone F; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Jasoliya MJ; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Romney C; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA., Petrasic IC; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; University of California, Davis, School of Medicine, Sacramento, California, USA., Napalinga K; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; MedMom Institute for Human Development, Pasig City, Philippines., Buchanan CB; Greenwood Genetic Center, Greenville, South Carolina, USA., Hagerman P; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA.; Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, Sacramento, California, USA., Hagerman R; UC Davis MIND Institute, UC Davis Health, Sacramento, California, USA rjhagerman@ucdavis.edu.; Department of Pediatrics, University of California, Davis, School of Medicine, Sacramento, California, USA., Casanova EL; Department of Biomedical Sciences, University of South Carolina School of Medicine Greenville, Greenville, South Carolina, USA. |
| المصدر: | Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 687-690. Date of Electronic Publication: 2021 Jun 30. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: London : British Medical Association |
| مواضيع طبية MeSH: | Ehlers-Danlos Syndrome*/complications , Ehlers-Danlos Syndrome*/diagnosis , Ehlers-Danlos Syndrome*/genetics , Fragile X Syndrome*/complications , Fragile X Syndrome*/genetics , Fragile X Syndrome*/pathology, Child, Preschool ; Female ; Fragile X Mental Retardation Protein/genetics ; Heterozygote ; Humans ; Male ; Phenotype ; Trinucleotide Repeat Expansion/genetics |
| مستخلص: | Background: While an association between full mutation CGG-repeat expansions of the Fragile X Mental Retardation 1 ( FMR1 ) gene and connective tissue problems are clearly described, problems in fragile X premutation carriers (fXPCs) CGG-repeat range (55-200 repeats) of the FMR1 gene may be overlooked. Objective: To report five FMR1 fXPCs cases with the hypermobile Ehlers-Danlos syndrome (hEDS) phenotype. Methods: We collected medical histories and FMR1 molecular measures from five cases who presented with joint hypermobility and loose connective tissue and met inclusion criteria for hEDS. Results: Five cases were female and ranged between 16 and 49 years. The range of CGG-repeat allele sizes ranged from 66 to 150 repeats. All had symptoms of hEDS since early childhood. Commonalities in molecular pathogenesis and coexisting conditions between the fXPCs and hEDS are also presented. The premutation can lead to a reduction of fragile X mental retardation protein, which is crucial in maintaining functions of the extracellular matrix-related proteins, particularly matrix metallopeptidase 9 and elastin. Moreover, elevated FMR1 messenger RNA causes sequestration of proteins, which results in RNA toxicity. Conclusion: Both hEDS phenotype and premutation involvement may co-occur because of related commonalities in pathogenesis. Competing Interests: Competing interests: FT has received from Azrieli Foundation, from Zynerba and from Asuragen, Inc. for studies in fragile X syndrome. (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.) |
| معلومات مُعتمدة: | P50 HD103526 United States HD NICHD NIH HHS; R01 HD036071 United States HD NICHD NIH HHS; U54 HD079125 United States HD NICHD NIH HHS; UL1 TR001860 United States TR NCATS NIH HHS |
| فهرسة مساهمة: | Keywords: gene expression; genetic predisposition to disease; genetics; human genetics; medical |
| المشرفين على المادة: | 0 (FMR1 protein, human) 139135-51-6 (Fragile X Mental Retardation Protein) |
| SCR Disease Name: | Ehlers-Danlos syndrome type 3 |
| تواريخ الأحداث: | Date Created: 20210701 Date Completed: 20220629 Latest Revision: 20230703 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC8717836 |
| DOI: | 10.1136/jmedgenet-2020-107609 |
| PMID: | 34193467 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1468-6244 |
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| DOI: | 10.1136/jmedgenet-2020-107609 |