scholarly journals Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
Dharshini Sathishkumar ◽  
Dincy Peter ◽  
Susanne Pulimood ◽  
Henning Wiegmann ◽  
Frederic Valentin ◽  
...  
Keyword(s):  
Rare Variant ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Temperature Sensitive ◽  
Congenital Ichthyosis ◽  
Indian Patients ◽  
Transglutaminase 1 ◽  
Bathing Suit ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Temperature Sensitive Phenotype

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) due to transglutaminase-1 gene (TGM1) mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the “bathing suit” areas. We report two Indian girls with bathing suit ichthyosis and mutations in TGM1 (patient 1: homozygous for c.1147G>A; patient 2: compound heterozygous for c.832G>A, c.919C>G).

scholarly journals Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

2006 ◽  
Vol 15 (21) ◽  
pp. 3083-3097 ◽  
Author(s):  
Vinzenz Oji ◽  
Juliette Mazereeuw Hautier ◽  
Bijan Ahvazi ◽  
Ingrid Hausser ◽  
Karin Aufenvenne ◽  
...  
Keyword(s):  
Temperature Sensitive ◽  
Transglutaminase 1 ◽  
Bathing Suit ◽  
Temperature Sensitive Phenotype

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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