Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review

@article{Dordoni2016FurtherDO,
  title={Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review},
  author={Chiara Dordoni and Claudia Ciaccio and M. Venturini and Piergiacomo Calzavara-Pinton and Marco Ritelli and Marina Colombi},
  journal={American Journal of Medical Genetics Part A},
  year={2016},
  volume={170},
  pages={2031 - 2038}
}
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… 

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

The data further support the extensive clinical overlap with PLOD1-k EDS and show that vascular complications are rare manifestations of FKBP14-kEDS.

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.

The first Colombian patient with a FKBP14 c.362dupC mutation is reported, with clinical features that include generalized hypotonia, delayed gross motor milestones, hearing loss, early-onset progressive kyphoscoliosis, joint hypermobility and foot deformities.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: awaiting peer review]

Clinical findings were kyphoscoliosis, early motor development delay, muscular weakness, hypotonia and hearing loss, and molecular genetic analysis detected a homozygous c.362dupC duplication in exon 3 of the FKBP14 gene in all five patients.

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

Literature analysis and examination of five EDSKS2 patients demonstrated the involvement of major organs and systems, such as joints, spine, muscles, cardiovascular system, respiratory system, hearing, and vision, into the pathological process.

Hypermobile Ehlers‐Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes

In this review, the current molecular, genetic, epidemiologic, and pathogenetic findings related to EDS are summarized with a focus on the hypermobile type.

Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14

A 15‐year‐old girl with FKBP14‐kEDS as a result of the recurrent c.362dupC variant is reported, who also showed severe involvement of the lower limb muscles.

Vascular aspects of the Ehlers-Danlos Syndromes.

  • F. Malfait
  • Biology, Medicine
    Matrix biology : journal of the International Society for Matrix Biology
  • 2018

The Ehlers–Danlos syndromes, rare types

The aim of this literature review is to summarize the current knowledge on the rare EDS subtypes and highlight areas for future research.

Let Time Teach You: A Case Report of a Double Diagnosis of 17P Duplication and Ehlers-Danlos Syndrome

The patient’s progressive kyphoscoliosis and severe joint laxity were the clinical features that prompted the patient's physiatrist to reassess the genetic work-up, which ultimately may have resulted in preventable clinical complications.

[Ehlers-Danlos syndromes].

  • D. Germain
  • Medicine
    Annales de dermatologie et de venereologie
  • 2017

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

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Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome

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Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997

This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.

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