Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
Open accessAbstract
We report on an autosomal-recessive variant of Ehlers-Danlos syndrome (EDS) characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine. Clinically, the disorder shares many features with the kyphoscoliotic type of EDS (EDS VIA) and Ullrich congenital muscular dystrophy. Linkage analysis in a large Tyrolean kindred identified a homozygous frameshift mutation in FKBP14 in two affected individuals. Based on the cardinal clinical characteristics of the disorder, four additional individuals originating from different European countries were identified who carried either homozygous or compound heterozygous mutations in FKBP14. FKBP14 belongs to the family of FK506-binding peptidyl-prolyl cis-trans isomerases (PPIases). ER-resident FKBPs have been suggested to act as folding catalysts by accelerating cis-trans isomerization of peptidyl-prolyl bonds and to act occasionally also as chaperones. We demonstrate that FKBP14 is localized in the endoplasmic reticulum (ER) and that deficiency of FKBP14 leads to enlarged ER cisterns in dermal fibroblasts in vivo. Furthermore, indirect immunofluorescence of FKBP14-deficient fibroblasts indicated an altered assembly of the extracellular matrix in vitro. These findings suggest that a disturbance of protein folding in the ER affecting one or more components of the extracellular matrix might cause the generalized connective tissue involvement in this disorder. FKBP14 mutation analysis should be considered in all individuals with apparent kyphoscoliotic type of EDS and normal urinary pyridinoline excretion, in particular in conjunction with sensorineural hearing impairment.
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Four different FKBP14 mutations have been identified to date.
“Four different FKBP14 mutations have been identified to date [Baumann et al., 2012;Aldeeri et al., 2014;Murray et al., 2014;Dordoni et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
The Molecular Analysis section identifies two distinct FKBP14 mutations, c.362dup and c.42_60del. Baumann et al. therefore supports the existence of FKBP14 mutations but does not establish the sentence’s total of four; the sentence also cites later papers for that cumulative claim. (LLM, conf=0.88)
Experimental — accuracy not yet measuredTo date, 10 patients with kEDS-FKBP14 from nine independent families have been described.
“To date, 10 patients with kEDS-FKBP14 from nine independent families have been described: Five pediatric (<12 years), three adolescents (16 years), and two adults (42-and 48-year-old) (Table S1) [Baumann et al., 2012, Aldeeri et al., 2014, Murray et al., 2014, Alazami et al., 2016, Dordoni et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
The Subjects and Methods section describes two affected people in family I and four additional people from other families; Molecular Analysis identifies those additional families as II–V. Baumann et al. therefore support six patients from five families, but do not establish the cited cumulative total of 10 patients from nine families. (LLM, conf=0.88)
Experimental — accuracy not yet measuredBiallelic mutations in FKBP14 cause a phenotype that clinically largely overlaps with kEDSPLOD1.
“Recently, biallelic mutations have been identified in FKBP14 , encoding FKBP22, a member of the F506binding family of peptidyl-prolyl cistrans isomerases, in patients displaying a phenotype that clinically largely overlaps with kEDSPLOD1 [Baumann et al., 2012].”
From The 2017 international classification of the Ehlers–Danlos syndromes (2017) · cites this paper as Baumann et al., 2012
The kEDS-FKBP14 condition is caused by biallelic mutations in FKBP14.
“The condition was shown to be caused by biallelic mutations in FKBP14 [Baumann et al., 2012].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
Baumann et al. [2012] reported five families with an autosomal recessive variant of EDS characterized by severe congenital muscle hypotonia, joint hypermobility, skin hyperextensibility, progressive kyphoscoliosis, and sensorineural hearing loss.
“Baumann et al. [2012] reported five families with an autosomal recessive variant of EDS, characterized by severe congenital muscle hypotonia, joint hypermobility, skin hyperextensibility, progressive kyphoscoliosis, and sensorineural hearing loss.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
Deficiency of FKBP22 results in enlarged ER cisterns in dermal fibroblasts and altered assembly of the extracellular matrix.
“Deficiency of FKBP22 was shown to result in enlarged ER cisterns in dermal fibroblasts, and an altered assembly of the ECM [Baumann et al., 2012].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
Muscle biopsy showed pathological results in six kEDS-FKBP14 patients, with myopathic changes and/or fiber atrophy; creatine kinase was generally normal or slightly elevated and electromyographic patterns were usually normal at very young age but sometimes myopathic later on.
“Muscle biopsy showed pathological results in six patients, with myopathic changes and/or fiber atrophy; creatine kinase was generally within the normal range or slightly elevated and electromyographic patterns were usually normal at very young age, but sometimes myopathic later on [Baumann et al., 2012].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Baumann et al., 2012
The ER cisternae of FKBP22-deficient fibroblasts were dilated and filled of proteins.
“Moreover, the ER cisternae of FKBP22-deficient fibroblasts were dilated and filled of proteins [33].”
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.”
In FKBP22-deficient skin fibroblasts, a disturbed distribution and assembly of several ECM proteins has been described, suggesting that FKBP22 deficiency influences the proper deposition of different structural constituents of the ECM.
“In FKBP22-deficient skin fibroblasts a disturbed distribution and assembly of several ECM proteins, such as COLLI, COLLIII, COLLV, COLLVI, FN, tenascins, and thrombospondin has been described, suggesting that FKBP22 deficiency influences the proper deposition of different structural constituents of the ECM [33].”
Our protein data indicated the disorganization of the core proteins of PGs perlecan, versican, and DCN, and their abnormal organization could contribute to the defective COLLIII fibril assembly in vEDS cells, as well as to the defective fibrillogenesis of other COLLs.
“Our protein data indicated the disorganization of the core proteins of PGs perlecan, versican, and DCN, which enhance COLL fibril formation [26], and their abnormal organization could contribute to the defective COLLIII fibril assembly in vEDS cells, as well as to the defective fibrillogenesis of other COLLs previously described in skin fibroblasts of different EDS types and in other connective”
Structural mutations in genes encoding for different COLLs, i.e., COLLI, COLLIII, and COLLV, affect not only the assembly but also the secretion pathways of other ECM components in EDS fibroblasts.
“according to the notion that structural mutations in genes encoding for different COLLs, i.e., COLLI, COLLIII, and COLLV, affect not only the assembly but also the secretion pathways of other ECM components in EDS fibroblasts [16,17,33].”
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- Authors
- Baumann, M., Giunta, C., Krabichler, B., Rüschendorf, F., Zoppi, N., Colombi, M., Bittner, R. E., Quijano-Roy, S., Muntoni, F., Cirak, S., Schreiber, G., Zou, Y., Hu, Y., Romero, N. B., Carlier, R. Y., Amberger, A., Deutschmann, A., Straub, V., Rohrbach, M., Steinmann, B., Rostásy, K., Karall, D., Bönnemann, C. G., Zschocke, J., & Fauth, C.
- Affiliations
- Innsbruck Medical University (AT)
- University Children's Hospital Zurich (CH)
- Max Delbrück Center (DE)
- University of Brescia (IT)
- Medical University of Vienna (AT)
- Université de Versailles Saint-Quentin-en-Yvelines (FR)
- Klinikum Kassel (DE)
- National Institutes of Health (US)
- Institut de Myologie (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Newcastle University (GB)
- Corresponding author
- Baumann, Matthias
- Fauth, Christine
- ORCID
- Baumann, Matthias
- Giunta, Cecilia
- Rüschendorf, Franz
- Zoppi, Nicoletta
- Colombi, Marina
- Bittner, Reginald E.
- Quijano-Roy, Susana
- Schreiber, Gudrun
- Zou, Yaqun
- Hu, Ying
- Romero, Norma Beatriz
- Carlier, Robert Yves
- Straub, Volker
- Rohrbach, Marianne
- Steinmann, Beat
- Karall, Daniela
- Bönnemann, Carsten G.
- Zschocke, Johannes
- Fauth, Christine
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2012-02
- Volume
- 90
- Issue
- 2
- Pages
- 201-216
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC3276673
- OpenAlex
- W2112474407
- Cited by
- 162
- References
- 49
- Citations by year
- 2026: 5 · 2025: 11 · 2024: 9 · 2023: 4 · 2022: 12 · 2021: 13 · 2020: 13 · 2019: 11 · 2018: 10 · 2017: 13 · 2016: 13 · 2015: 16 · 2014: 13 · 2013: 13 · 2012: 6
- FWCI
- 9.22
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Institutional Research Information System (Università degli Studi di Brescia) (submittedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion)
- Funders
- Rosetrees Trust
- Great Ormond Street Hospital Charity
- Great Ormond Street Hospital for Children
- Gottfried und Julia Bangerter-Rhyner-Stiftung
- Muscular Dystrophy UK
- 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 › Molecular Biology › Muscle Physiology and Disorders
- Keywords
- Ehlers-Danlos syndrome, kyphoscoliosis, myopathy, sensorineural hearing loss, Ullrich congenital muscular dystrophy, peptidyl-prolyl isomerase, endoplasmic reticulum, protein folding, extracellular matrix, compound heterozygosity, frameshift mutation, connective tissue diseases, fibroblasts
- MeSH terms
- Abnormalities, Multiple, Adolescent, Amino Acids, Child, Child, Preschool, Ehlers-Danlos Syndrome, Endoplasmic Reticulum, Extracellular Matrix, Female, Fibroblasts, Heterozygote, Homozygote, Humans, Male, Middle Aged, Phenotype, Genetic Variation, Frameshift Mutation, Protein Folding, Peptidylprolyl Isomerase, cis-trans-Isomerases, Hearing Loss
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