Mutations in transglutaminase 1 gene in autosomal recessive congenital ichthyosis in Egyptian families.

Abstract	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 the MspI restriction 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.
Authors	R M Shawky, N S Sayed, N A Elhawary
Journal	Disease markers (Dis Markers) Vol. 20 Issue 6 Pg. 325-32 ( 2004) ISSN: 0278-0240 [Print] United States
PMID	15665393 (Publication Type: Journal Article, Research Support, U.S. Gov't, Non-P.H.S.)
Chemical References	Transglutaminases transglutaminase 1 Deoxyribonuclease HpaII
Topics	Adolescent Adult Age of Onset Alleles Alternative Splicing Child Child, Preschool DNA Mutational Analysis Deoxyribonuclease HpaII (metabolism) Egypt Exons Family Health Female Genes, Recessive Genotype Humans Ichthyosiform Erythroderma, Congenital (diagnosis, genetics) Ichthyosis, Lamellar (diagnosis, genetics) Infant Infant, Newborn Introns Male Mutation Pedigree Phenotype Polymerase Chain Reaction Transglutaminases (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!