scholarly journals Rare Autosomal Recessive Cardiac Valvular Form of Ehlers-Danlos Syndrome Results from Mutations in the COL1A2 Gene That Activate the Nonsense-Mediated RNA Decay Pathway

2004 ◽  
Vol 74 (5) ◽  
pp. 917-930 ◽  
Author(s):  
Ulrike Schwarze ◽  
Ryu-Ichiro Hata ◽  
Victor A. McKusick ◽  
Hiroshi Shinkai ◽  
H. Eugene Hoyme ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rna Decay ◽  
Ehlers Danlos Syndrome ◽  
Col1a2 Gene ◽  
Nonsense Mediated Rna Decay ◽  
Danlos Syndrome

The first Japanese case of the arthrochalasia type of Ehlers–Danlos syndrome with COL1A2 gene mutation

Gene ◽  
2014 ◽  
Vol 538 (1) ◽  
pp. 199-203 ◽  
Author(s):  
Atsushi Hatamochi ◽  
Takahiro Hamada ◽  
Makoto Yoshino ◽  
Takashi Hashimoto
Keyword(s):  
Gene Mutation ◽  
Ehlers Danlos Syndrome ◽  
Japanese Case ◽  
Col1a2 Gene ◽  
Danlos Syndrome

Ehlers-Danlos syndrome

1966 ◽  
Vol 15 (3) ◽  
pp. 273-295
Author(s):  
L. Capotorti ◽  
M. Antonelli
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Signs ◽  
Long Bones ◽  
Muscular Hypotonia ◽  
Ehlers Danlos Syndrome ◽  
Partial Form ◽  
Danlos Syndrome ◽  
Tubular Bones ◽  
Apparently Healthy

SUMMARYThe Authors describe a pedigree including four certain and two probable cases of «Ehlers-Danlos syndrome ». All the affected subjects were born to consanguineous but apparently healthy parents. Of the three main symptoms of the syndrome, the patients presented hyperelasticity of the skin and hyperlaxity of the joints and of the ligaments, while the signs of cutaneous fragility were absent (« partial form » of E.-D. syndrome). In the first two cases it was possible to find some less common aspects of the E.-D. syndrome, such as ectasia of the trachea and of the main bronchi, anomalies regarding the eyes, the teeth and the nails, muscular hypotonia and hypotrophia, and particularly some skeletal manifestations (bending of the long bones, osteoporosis, anomalies of the methaphysis and epiphysis of the tubular bones, vertebral, thoracic and pelvic deformations).The Authors emphasize the importance of these less common aspects of the E.-D. syndrome, and the similarity between these clinical signs and those found in other « heritable disorders of the connective tissue ».The type of inheritance in this family (autosomal recessive) is discussed, in comparison to the commoner type (autosomal dominant) of inheritance of the E.-D. syndrome.

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorder

2008 ◽  
Vol 25 (3) ◽  
pp. 278-287 ◽  
Author(s):  
Hassan M. B. Sulh ◽  
Beat Steinmann ◽  
Velidi H. Rao ◽  
Gertrud Dudin ◽  
Joseph Abu Zeid ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Type Iv ◽  
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

Autosomal recessive cutis laxa type 2A (ARCL2A) mimicking Ehlers-Danlos syndrome by its dermatological manifestations: Report of three affected patients

2014 ◽  
Vol 164 (5) ◽  
pp. 1245-1253 ◽  
Author(s):  
Marie T. Greally ◽  
Neale N. Kalis ◽  
Wahid Agab ◽  
Kasim Ardati ◽  
Sanda Giurgea ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Cutis Laxa ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII

2000 ◽  
Vol 106 (1) ◽  
pp. 19-28 ◽  
Author(s):  
M.L. Raff ◽  
W.J. Craigen ◽  
L.T. Smith ◽  
D.R. Keene ◽  
P.H. Byers
Keyword(s):  
Gene Duplication ◽  
Osteogenesis Imperfecta ◽  
Syndrome Type ◽  
Ehlers Danlos Syndrome ◽  
Col1a2 Gene ◽  
Danlos Syndrome
Sign in / Sign up

Export Citation Format

Share Document