scholarly journals The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 420 ◽  
Author(s):  
Camille Kumps ◽  
Belinda Campos-Xavier ◽  
Yvonne Hilhorst-Hofstee ◽  
Carlo Marcelis ◽  
Marius Kraenzlin ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Zinc Transporter ◽  
Facial Features ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Type 3 ◽  
Danlos Syndrome

Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the hands and feet, characteristic facial features with downslanting palpebral fissures, mild hypertelorism, prominent eyes with a paucity of periorbital fat, blueish sclerae, microdontia, or oligodontia, and—in contrast to most types of Ehlers–Danlos syndrome—significant short stature of childhood onset. Mild radiographic changes were observed, among which platyspondyly is a useful diagnostic feature. Two of our patients developed severe keratoconus, and two suffered from cerebrovascular accidents in their twenties, suggesting that there may be a vascular component to this condition. All patients tested had a significantly reduced ratio of the two collagen-derived crosslink derivates, pyridinoline-to-deoxypyridinoline, in urine, suggesting that this simple test is diagnostically useful. Additionally, analysis of the facial features of affected individuals by DeepGestalt technology confirmed their specificity and may be sufficient to suggest the diagnosis directly. Given that the clinical presentation in childhood consists mainly of short stature and characteristic facial features, the differential diagnosis is not necessarily that of a connective tissue disorder and therefore, we propose that SLC39A13 is included in gene panels designed to address dysmorphism and short stature. This approach may result in more efficient diagnosis.

scholarly journals Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Delia Lorenz ◽  
Wolfram Kress ◽  
Ann-Kathrin Zaum ◽  
Christian P. Speer ◽  
Helge Hebestreit
Keyword(s):  
Connective Tissue ◽  
Short Stature ◽  
Connective Tissue Disorder ◽  
Joint Hypermobility ◽  
Compound Heterozygous ◽  
Ehlers Danlos Syndrome ◽  
Craniofacial Features ◽  
Chain Synthesis ◽  
Compound Heterozygous Variants ◽  
Danlos Syndrome

Abstract Background The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. Presentation of cases We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. Conclusions This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.

scholarly journals Ehlers-Danlos Syndrome—Hypermobility Type and Hemorrhoids

2014 ◽  
Vol 2014 ◽  
pp. 1-3
Author(s):  
Timothy P. Plackett ◽  
Edward Kwon ◽  
Ronald A. Gagliano ◽  
Robert C. Oh
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Pain ◽  
Clinical Examination ◽  
Connective Tissue Disorder ◽  
Chronic Musculoskeletal Pain ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Ehlers-Danlos syndrome-hypermobility type (EDS-HT) is a connective tissue disorder associated with chronic musculoskeletal pain. The diagnosis is based on simple clinical examination, although it is easily overlooked. Herein we present a case of EDS-HT associated with hemorrhoids and suggest that there may be an association between the two conditions.

scholarly journals Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13

2008 ◽  
Vol 82 (6) ◽  
pp. 1290-1305 ◽  
Author(s):  
Cecilia Giunta ◽  
Nursel H. Elçioglu ◽  
Beate Albrecht ◽  
Georg Eich ◽  
Céline Chambaz ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Zinc Transporter ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos syndrome with damage to the digestive tract, heart, kidneys and other organs

2021 ◽  
Vol 1 (1) ◽  
pp. 183-190
Author(s):  
S. N. Borzakova ◽  
L. A. Kharitonova ◽  
I. M. Osmanov ◽  
I. D. Maikova
Keyword(s):  
Connective Tissue ◽  
Methodological Approach ◽  
First Year ◽  
Many Body ◽  
Ehlers Danlos Syndrome ◽  
Connective Tissue Dysplasia ◽  
Training Courses ◽  
First Year Of Life ◽  
Danlos Syndrome

Relevance: Hereditary connective tissue disorders (HCTDs) are a heterogeneous group of diseases caused by mutations in the genes of extracellular matrix proteins or proteins involved in connective tissue morphogenesis. Mutations of these genes lead to the development of many HCTDs. The best known monogenic variants of HCTDs are Marfan syndrome, Ehlers-Danlos syndrome, and osteogenesis imperfecta. Inheritance is mainly autosomal, dominant or recessive. Although the first signs of HCTDs develop as early as the first year of life, it takes several years for pediatricians and specialty physicians to make the diagnosis of connective tissue dysplasia because of a lack of clear methodological approach. The disease is multi-morbid and may manifest under gastroenterological, cardiological, nephrological, or respiratory masks.Aim: to present a clinical case of Ehlers-Danlos syndrome with multiorgan digestive, heart, kidneys, and other lesions.Material and methods: the case history is presented of a 15‑year-old boy with Ehlers-Danlos syndrome, classic type.Discussion: defective collagen increased the connective tissue extensibility affecting function of many body organs and systems, including gastrointestinal, biliary, and urinary tracts, musculoskeletal and cardiovascular systems. Small developmental anomalies led to functional (motor) disorders, which contributed to the chronic organic pathology (erosive reflux esophagitis, gastroduodenitis, cholelithiasis, proctosigmoiditis, chronic pyelonephritis, or chronic sinusitis). Given the multi-organ character of the lesions, the progredient course of bone and joint changes, and early development of disability, the prognosis for the health of this child is serious. A multidisciplinary approach is important to plan the follow-up (with orthopedist, gastroenterologist, cardiologist, ophthalmologist, and nephrologist). Timely rehabilitation, therapeutic physical training courses, massage, metabolic, and anti-relapse treatment are necessary to slow down the progredient course of the hereditary connective tissue disease.

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