ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed.
- Between myopathy and mortality: Challenges in the diagnosis ofJournal of neuromuscular diseases · 2026Article
- Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome.Molecular syndromology · 2026Article
- Surgical management of progressive spinal deformities in FKBP14-associated Ehlers-Danlos syndrome: a case report and literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- Collagen IV biosynthesis: Intracellular choreography of post-translational modifications.Matrix biology : journal of the International Society for Matrix Biology · 2025Review
- Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman WithClinical case reports · 2025Article
- Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.International journal of molecular sciences · 2023Article
- Article
- The role of cutaneous manifestations in the diagnosis of the Ehlers-Danlos syndromes.Skin health and disease · 2023Review
- Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome.Genes · 2022Article
- [Advances in studies on genetics of syndromes combining sensorineural hearing loss with scoliosis].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021Review
- Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.F1000Research · 2021Article
- Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome.American journal of ophthalmology case reports · 2020Article
- The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020Review
- Bone Disease in Patients with Ehlers-Danlos Syndromes.Current osteoporosis reports · 2020Review
- Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features BetweenGenes · 2019Article
- Article
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30 authors.
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Abstract
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and hyperelastic skin. FKBP14 is an ER-resident protein belonging to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases); it catalyzes the folding of type III collagen and interacts with type III, type VI, and type X collagens. Only nine affected individuals have been reported to date.MethodsWe report on a cohort of 17 individuals with FKBP14-kEDS and the follow-up of three previously reported patients, and provide an extensive overview of the disorder and its natural history based on clinical, biochemical, and molecular genetics data.ResultsBased on the frequency of the clinical features of 23 patients from the present and previous cohorts, we define major and minor features of FKBP14-kEDS. We show that myopathy is confirmed by histology and muscle imaging only in some patients, and that hearing impairment is predominantly sensorineural and may not be present in all individuals.ConclusionOur data further support the extensive clinical overlap with PLOD1-kEDS and show that vascular complications are rare manifestations of FKBP14-kEDS.
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