Prenatal Diagnosis of Lamellar Ichthyosis
Journal Title: International Journal of Medical Science and Innovative Research (IJMSIR) - Year 2018, Vol 3, Issue 6
Abstract
Lamellar ichthyosis type 1 (LI1) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 14q11. We report the identification of a missense mutations in theTGM1 gene in a child affected with LI1 and prenatal diagnosis in subsequent pregnancy by mutation study of the fetus by chorionic villus sampling which revealed the similar mutation in homozygous state. Lamellar ichthyosis is an autosomal recessive genetic disorder, which means the defective gene is located on an autosome, and both parents must carry one copy of the defective gene in order to have a child born with the disorder. Carriers of a recessive gene usually do not show any signs or symptoms of the disorder but the risk to have affected child is there.
Authors and Affiliations
Dr. Vineet V Mishra
Keywords
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