Indian Journal of Dermatology
CASE REPORT
Year
: 2006  |  Volume : 51  |  Issue : 4  |  Page : 281--282

Prenatal exclusion of lameller ichthyosis based on two novel mutations in TGM 1 gene


Jayesh Sheth, Sumant Shah, Dilip Master, Frenny Sheth 
 From the FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/1, Bima Nagar, Satellite, Ahmedabad - 380015, India

Correspondence Address:
Jayesh Sheth
FRIGE (Foundation for Research in Genetics and Endocrinology) Genetic Centre, 20/ 1, Bima Nagar, Satellite, Ahmedabad - 380 015, Gujarat
India

Autosomal recessive Lamellar ichthyosis (LI) is a rare condition with the birth frequency of 1:300,000. We describe two sibs of LI born to the nonconsanguineous parents. DNA was isolated from the peripheral blood and CVS were processed for mutation search in transglutaminase gene (TGM 1) has revealed parental mutation in exon 4 at nucleotide 705 (705delC) causing frame shift leading to a premature termination codon and amino acid change (K487R) in exon 10 in mother. Absence of both mutations confirmed the normal status of the fetus and delivered a normal baby at full term. Thus early prenatal diagnosis can assure the couple for a normal healthy baby.


How to cite this article:
Sheth J, Shah S, Master D, Sheth F. Prenatal exclusion of lameller ichthyosis based on two novel mutations in TGM 1 gene.Indian J Dermatol 2006;51:281-282


How to cite this URL:
Sheth J, Shah S, Master D, Sheth F. Prenatal exclusion of lameller ichthyosis based on two novel mutations in TGM 1 gene. Indian J Dermatol [serial online] 2006 [cited 2021 Dec 9 ];51:281-282
Available from: https://www.e-ijd.org/article.asp?issn=0019-5154;year=2006;volume=51;issue=4;spage=281;epage=282;aulast=Sheth;type=0