Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review
Open accessAbstract
FKBP14‐related Ehlers–Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506‐binding family of peptidyl‐prolyl cis‐trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature. This evaluation confirms that kyphoscoliosis (either progressive or non‐progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. Since the patient showed a severe cardiovascular event in childhood and atlantoaxial instability, this report expands the phenotype of the disorder and the allelic repertoire of FKBP14. © 2016 Wiley Periodicals, Inc.
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Biallelic mutations in FKBP14 cause kyphoscoliotic EDS (kEDS-FKBP14) that is complicated by life-threatening cardiovascular complaints.
“Biallelic mutations in FKBP14 cause kyphoscoliotic EDS (kEDS-FKBP14) that is complicated by life-threatening cardiovascular complaints.”
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Cites
Peptidylprolyl Cis / Trans Isomerases (Immunophilins): Biological Diversity - Targets - Functions
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“catalyze cis-trans-isomerization of peptidyl-prolyl peptide bonds and to accelerate protein folding, particularly of procollagens [Galat, 2003].”
BackgroundSteinmann, B., Royce, P. M., & Superti‐Furga, A. (2002) · Connective Tissue and Its Heritable Disorders · doi:10.1002/0471221929.ch9 · Cited by 358 · see citing works
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Self-citationColombi, M., Dordoni, C., Chiarelli, N., & Ritelli, M. (2015) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.31429 · Cited by 127 · see citing works
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The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
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- Authors
- Dordoni, C., Ciaccio, C., Venturini, M., Calzavara‐Pinton, P., Ritelli, M., & Colombi, M.
- Affiliations
- University of Brescia (IT)
- Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT)
- Corresponding author
- Colombi, Marina
- ORCID
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2016-05-05
- Volume
- 170
- Issue
- 8
- Pages
- 2031-2038
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2345729080
- Cited by
- 20
- References
- 7
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 1 · 2023: 1 · 2022: 2 · 2021: 2 · 2020: 3 · 2019: 1 · 2018: 3 · 2017: 4
- FWCI
- 2.15
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Licence
- Locations
- American Journal of Medical Genetics Part A (publishedVersion)
- PubMed (publishedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion, other-oa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- peptidyl-prolyl isomerase, connective tissue diseases, compound heterozygosity, novel mutations, kyphoscoliosis, vascular complications, atlantoaxial instability, joint hypermobility, myopathy, congenital hearing loss, pediatric patients, genotype-phenotype correlation
- MeSH terms
- Child, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Exons, Heterozygote, Humans, Kyphosis, Male, Mutation, Phenotype, Radiography, Scoliosis, Facies, Peptidylprolyl Isomerase, Genetic Association Studies
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