ABSTRACT
Structure-function implication on a novel homozygous Trp250/Gly mutation of transglutaminase-1 (TGM1) observed in a patient of autosomal recessive congenital ichthyosis is invoked from a bioinformatics analysis. Structural consequences of this mutation are hypothesized in comparison to homologous enzyme human factor XIIIA accepted as valid in similar structural analysis and are projected as guidelines for future studies at an experimental level on TGM1 thus mutated.
Subject(s)
Genes, Recessive/genetics , Ichthyosis, Lamellar/diagnosis , Ichthyosis, Lamellar/genetics , Polymorphism, Single Nucleotide/genetics , Transglutaminases/genetics , Base Sequence , Female , Genetic Predisposition to Disease/genetics , Humans , Infant , Molecular Sequence Data , Mutation/geneticsABSTRACT
The authors report a 9-day old neonate from a rural area with umbilical myiasis caused by fly larvae of Cochliomyia hominivorax. The blowfly causing this infestation belongs to the family Calliphoridae (Diptera) and the genus Cochliomyia that usually infests only open wounds of animals. The new-world screw-worm fly Cochliomyia hominivorax, is an obligate ectoparasite of domestic and wild animals, and in some cases may affect humans. This is the rare reported case of neonatal umbilical myiasis with sepsis in the world literature.
