Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis

2015 ◽  
Vol 55 (2) ◽  
pp. 201-207 ◽  
Author(s):  
San-Quan Zhang ◽  
Chang-Xing Li ◽  
Xin-Qian Gao ◽  
Wen-Yuan Qiu ◽  
Quan Chen ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Autosomal Recessive ◽  
Functional Characterization ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

2004 ◽  
Vol 20 (6) ◽  
pp. 325-332 ◽  
Author(s):  
R. M. Shawky ◽  
N.S. Sayed ◽  
N.A. Elhawary
Keyword(s):  
Restriction Endonuclease ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
The Other ◽  
Splice Acceptor ◽  
Acceptor Splice Site ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by theMspIrestriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

scholarly journals Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: Summary of mutations (including 23 novel) and modeling of TGase-1

2009 ◽  
Vol 30 (4) ◽  
pp. 537-547 ◽  
Author(s):  
Matthew L. Herman ◽  
Sharifeh Farasat ◽  
Peter J. Steinbach ◽  
Ming-Hui Wei ◽  
Ousmane Toure ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

scholarly journals Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

1999 ◽  
Vol 7 (6) ◽  
pp. 625-632 ◽  
Author(s):  
Elina Laiho ◽  
Kirsti-Maria Niemi ◽  
Jaakko Ignatius ◽  
Juha Kere ◽  
Aarno Palotie ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Gene Mutations ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis
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