scholarly journals Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13

2011 ◽  
Vol 155 (8) ◽  
pp. 2011-2014
Author(s):  
Linda C. Walker ◽  
Elizabeth M. Ju ◽  
Heather N. Yeowell
Keyword(s):  
Mutational Analysis ◽  
Zinc Transporter ◽  
Syndrome Type ◽  
Transporter Gene ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

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 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 Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

1991 ◽  
Vol 266 (8) ◽  
pp. 5244-5248
Author(s):  
H Vissing ◽  
M D'Alessio ◽  
B Lee ◽  
F Ramirez ◽  
P H Byers ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
Danlos Syndrome ◽  
Procollagen Iii

Ehlers-Danlos syndrome type VII: phenotype and genotype

1994 ◽  
Vol 286 (8) ◽  
pp. 425-428 ◽  
Author(s):  
H. W. Lehmann ◽  
S. Mundlos ◽  
A. Winterpacht ◽  
R. E. Brenner ◽  
B. Zabel ◽  
...  
Keyword(s):  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

1987 ◽  
Vol 262 (34) ◽  
pp. 16376-16385 ◽  
Author(s):  
MK Wirtz ◽  
RW Glanville ◽  
B Steinmann ◽  
VH Rao ◽  
DW Hollister
Keyword(s):  
Amino Acids ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome
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