The Ehlers–Danlos syndromes, rare types

No abstract is available for this paper.

• Publication year

  2017

• Venue

  American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

• Publication date

  2017-03-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1002/ajmg.c.31550PMID 28306225
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients

  2017influential reference
• Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

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• Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7—a review of eye anomalies in the linkeropathy syndromes

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• Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type): A unique South African disorder.

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• Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

  2016influential reference
• Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review

  2016cited by this paper
• Further defining the phenotypic spectrum of B4GALT7 mutations

  2016cited by this paper
• Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type

  2016influential reference
• Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

  2016cited by this paper
• The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations

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• Two patients with Ehlers–Danlos syndrome type VIII with unexpected hoarseness

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• CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

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• A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing.

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• A novel COL 12 A 1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

  2016influential reference
• Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis

  2015influential reference
• A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome.

  2015cited by this paper
• Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature

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• Hybrid treatment for thoracoabdominal aortic aneurysms in patients with Marfan syndrome.

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• Broadening the Spectrum of Ehlers Danlos Syndrome in Patients With Congenital Adrenal Hyperplasia.

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• A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

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• Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families

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• Tenascin-X: beyond the architectural function

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• Recurrent gastrointestinal perforation in a patient with Ehlers–Danlos syndrome due to tenascin‐X deficiency

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• Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.

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• Arthrochalasis Type of Ehlers–Danlos Syndrome (EDS Types VIIA and VIIB) and Related Disorders

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• Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type)

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• Dysarthria and dysphagia are highly prevalent among various types of neuromuscular diseases

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• Carbohydrate ( N -Acetylgalactosamine 4- O ) Sulfotransferase 14 (CHST14)

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• Congenital corneal anesthesia.

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• Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

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• Global Burden of Severe Periodontitis in 1990-2010

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• Deciphering the Fine Details of C1 Assembly and Activation Mechanisms: “Mission Impossible”?

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• Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome.

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• Molecular pathogenesis of Spondylocheirodysplastic Ehlers-Danlos syndrome caused by mutant ZIP13 proteins

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  2014influential reference
• Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

  2014influential reference
• Insights in the etiopathology of galactosyltransferase II (GalT-II) deficiency from transcriptome-wide expression profiling of skin fibroblasts of two sisters with compound heterozygosity for two novel B3GALT6 mutations

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• Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype

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• A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation.

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• Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.

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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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• Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

  2014cited by this paper
• Critical care of kyphoscoliotic type Ehlers-Danlos syndrome with recurrent vascular emergencies.

  2014influential reference
• FKBP14‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications

  2014cited by this paper
• The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation.

  2014cited by this paper
• A Substrate Preference for the Rough Endoplasmic Reticulum Resident Protein FKBP22 during Collagen Biosynthesis*

  2014cited by this paper
• Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.

  2013cited by this paper
• Neuromuscular properties of the thigh muscles in patients with ehlers–danlos syndrome

  2013cited by this paper
• Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature

  2013cited by this paper
• Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.

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• Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

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• Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

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• Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

  2013cited by this paper
• ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

  2013cited by this paper
• Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

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• Brittle cornea syndrome: recognition, molecular diagnosis and management

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• Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome.

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• Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

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• Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

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• Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

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• Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers-Danlos Syndrome.

  2012influential reference
• Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome

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• Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness

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• Prdm5 Regulates Collagen Gene Transcription by Association with RNA Polymerase II in Developing Bone

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• Well-defined clinical presentation of Ehlers–Danlos syndrome in patients with tenascin-X deficiency: a report of four cases

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• Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers–Danlos syndrome

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• A novel mutation in PRDM5 in brittle cornea syndrome

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• Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene

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• Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation

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• A response to: Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient Adducted Thumb–Clubfoot Syndrome”. Which name is appropriate, “Adducted Thumb–Clubfoot Syndrome” or “Ehlers–Danlos syndrome”?

  2011cited by this paper
• Loss of dermatan‐4‐sulfotransferase 1 (D4ST1/CHST14) function represents the first dermatan sulfate biosynthesis defect, “dermatan sulfate‐deficient adducted thumb–clubfoot syndrome”

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• Ehlers–Danlos type VIII, periodontitis‐type: Further delineation of the syndrome in a four‐generation pedigree

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• Biochemical Characterization of Human ZIP13 Protein

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• Collagen-related genes influence the glaucoma risk factor, central corneal thickness.

  2011influential reference
• Genetic study of families affected with aggressive periodontitis.

  2011cited by this paper
• Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

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• Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients

  2011influential reference
• Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

  2011cited by this paper
• Tenascin‐X deficiency and Ehlers–Danlos syndrome: a case report and review of the literature

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  2010influential reference
• Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge?

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• A new Ehlers–Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility‐related manifestations

  2010cited by this paper
• Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X).

  2010cited by this paper
• Musculocontractural Ehlers‐Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene

  2010influential reference
• Intractable vasculitis, resorptive osteolysis, and immunity to type I collagen in type VIII Ehlers-Danlos syndrome.

  2010cited by this paper
• Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene.

  2010cited by this paper
• Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness

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• New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

  2010cited by this paper
• DNA methylation and carcinogenesis of PRDM5 in cervical cancer

  2010influential reference

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• Sleep-Related Hypoventilation in a Patient With Ehlers-Danlos Syndrome

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• Bend the fingers: Ehlers Danlos syndrome and the associated disorders that impact treatment of chronic musculoskeletal pain

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• Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder

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• Complications and Management of Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders: A Literature Review.

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