Prenatal Diagnosis of Leukocyte Adhesion Deficiency Type-1 (Five Cases from Iran with Two New Mutations)

Leukocyte adhesion deficiency type-1(lad-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 2 (itgb2) gene. the aim of this study was to investigate molecular prenatal diagnosis of lad-1. four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of lad-1 in their previous children were studied. the chorionic villus sampling (cvs) was obtained when mothers were in 10-12th weeks of gestation. mutation analysis of itgb2 gene for affected children revealed 3 misssense mutations (c.382g>a, a novel mutation, c.2146g>c, and c.715g>a) and one splice site novel mutation (c.1877+2t>c). all parents were heterozygous for these mutations. consideration of affected gene regions for five cvs samples showed two homozygotes and one heterozygote for mutant allele and two homozygotes for normal allele. interestingly, one of the twin fetuses was affected and another was normal. briefly, two cases of cvs samples were affected and three cases of remained cvs samples were unaffected. this is the first report of prenatal diagnosis of lad-1 from iran with two new mutations that can be used for genetic and prenatal diagnosis for all patients suspected to lad1 and can be helpful to prevent the birth of affected children with lad-1. this abstract was presented in the second international congress of immunology, asthma and allergy, tehran, iran 2013.