| CASE REPORT |
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| Year : 2006 | Volume
: 51
| Issue : 4 | Page : 281-282 |
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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
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0019-5154.30296
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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. |
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