A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type

2004 ◽  
Vol 128A (1) ◽  
pp. 39-45 ◽  
Author(s):  
Muhammad Faiyaz-Ul-Haque ◽  
Syed Hassan Ejaz Zaidi ◽  
Mariam Al-Ali ◽  
Mariam S. Al-Mureikhi ◽  
Shelley Kennedy ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome ◽  
Galactosyltransferase I

scholarly journals A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Miki Watanabe ◽  
Ryuji Nakagawa ◽  
Takuya Naruto ◽  
Tomohiro Kohmoto ◽  
Ken-ichi Suga ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

A Chinese family with periodontal Ehlers-Danlos syndrome associated with missense mutation in the C1R gene

2018 ◽  
Vol 45 (11) ◽  
pp. 1311-1318
Author(s):  
Juan Wu ◽  
Jie Yang ◽  
Jie Zhao ◽  
Jingrong Wu ◽  
Xuan Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

Novel missense mutation in theCOL3A1gene caused vascular Ehlers-Danlos syndrome in a Chinese family

2014 ◽  
Vol 42 (1) ◽  
pp. 95-96
Author(s):  
Fang He ◽  
Xianwei Wang ◽  
Xinzhang Cai ◽  
Hao Peng ◽  
Lusi Zhang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

scholarly journals Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6

Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 799 ◽  
Author(s):  
Caraffi ◽  
Maini ◽  
Ivanovski ◽  
Pollazzon ◽  
Giangiobbe ◽  
...  
Keyword(s):  
Soft Tissue ◽  
Correct Diagnosis ◽  
Joint Hypermobility ◽  
Clinical Feature ◽  
Ehlers Danlos Syndrome ◽  
Linker Region ◽  
Genes Encoding ◽  
Hands And Feet ◽  
Danlos Syndrome ◽  
Galactosyltransferase I

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as “linkeropathies”. The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis.

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