title: Prenatal diagnosis of leukocyte adhesion deficiency type-1 (five cases from iran with two new mutations).
abstract: Leukocyte adhesion deficiency type-1(LAD-1) is one of the immunodeficiency autosomal recessive diseases that results from mutation in integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) ITGB2 gene. The aim of this study was to investigate molecular prenatal diagnosis of LAD-1. Four pregnant women with five fetuses (one pregnancy was twin) 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+2G>A). All of 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 presented in the second international congress of Immunology, Asthma and Allergy, Tehran, Iran 2013.
authors: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran. esmaeili.behnaz@yahoo.com.
authors: Behnaz
authors: B
authors: Esmaeili
authors: Mohsen
authors: M
authors: Ghadami
authors: Mohammad Reza
authors: MR
authors: Fazlollahi
authors: Shirin
authors: S
authors: Niroomanesh
authors: Lida
authors: L
authors: Atarod
authors: Zahra
authors: Z
authors: Chavoshzadeh
authors: Zeinab
authors: Z
authors: Moradi
authors: Zahra
authors: Z
authors: Alizadeh
authors: Zahra
authors: Z
authors: Pourpak
mesh_terms: D000483:Alleles; D018821:CD18 Antigens / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007492:Iran; D018370:Leukocyte-Adhesion Deficiency Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D018821:CD18 Antigens