PRENATAL EXCLUSION OF AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS BY MUTATION ANALYSIS OF TRANSGLUTAMINASE 1 GENE

Neha Singh; Vandana Bansal; Tejaswini Patil; Kaizad Damania

Volume : VII, Issue : III, March - 2018

PRENATAL EXCLUSION OF AUTOSOMAL RECESSIVE LAMELLAR ICHTHYOSIS BY MUTATION ANALYSIS OF TRANSGLUTAMINASE 1 GENE

Neha Singh, Vandana Bansal, Tejaswini Patil, Kaizad Damania

Abstract :

Background: Congenital lamellar ichthyosis (LI) is a rare autosomal recessive genetic skin disorder characterized by generalized hyperkeratosis and scaling. Two other forms of autosomal recessive congenital ichthyosis are harlequin ichthyosis (most severe and often fatal form) and nonbullous ichthyosiform erythroderma. Transglutaminase1 (TGM1) mutation has been found to be associated with LI in affected individuals. Prenatal diagnosis of LI is possible due to availability of molecular genetic testing with an advantage of having earlier diagnosis before 20 weeks. Case Report: A 27–year–old G3P2L1D1 with third degree consanguinity was referred at 12.6 weeks� gestation for prenatal diagnosis and genetic counselling. She had first female child manifesting clinical features of congenital lamellar ichthyosis. Couple seeked preconceptional counselling and they were referred to geneticist along with affected child. Affected child was evaluated by molecular genetic testing and detected to have homozygous mutation for Transglutaminase 1 gene. Couple was also tested for the same genetic mutation and they were found to be heterozygous carriers for TGM1 gene related LI. Therefore, preconceptional genetic counselling and evaluation of affected child and couple provided us molecular diagnosis. In present pregnancy, chorionic villous sampling was done for prenatal diagnosis in fetus and sample was sent for TGM1 mutation analysis. Sanger sequencing was done and fetus was found to be heterozygous for TGM1 mutation. Pregnancy was continued till term and healthy female child was born by caesarean section with no skin lesions. Postnatal course was uneventful and baby was discharged on day 5 of birth. Conclusion: This case report concludes that prenatal molecular genetic diagnosis is possible quite earlier in gestation, if index case has been evaluated completely. < clear="all" style="page–eak–before:always;mso–eak–type:section–eak" />