+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis

Prenatal Diagnosis 20(2): 132-137

Lamellar ichthyosis (LI) is an autosomal recessive keratinization disorder of the skin. Genetic heterogeneity has been shown for the disease and there is evidence for the involvement of the transglutaminase 1 (TGM1) gene on chromosome 14q11. We have previously identified chromosome 14q11 haplotypes associated with ichthyosis in the Norwegian population. In this paper we describe antenatal exclusion of ichthyosis in two Norwegian families by chromosome 14q11 haplotype association and direct mutation analysis. In one pregnancy, the 11-week old fetus at risk for LI was found to share only one disease-associated haplotype. A subsequent mutation analysis of the TGM1 gene in fetal DNA revealed that the fetus carried a novel 3795A-->T transversion. The affected proband was compound heterozygous for the mutations 3795A-->T and 3239G-->C resulting in an Asp430Val and a Val379Leu, respectively. In another LI family, the 11-week old fetus was found to be heterozygous for the 14q11 haplotype associated with the disease. Subsequent mutation analysis revealed that the fetus was heterozygous for the 2526A-->G transition in the splice site of intron 5 whereas the proband was homozygous for the same mutation. Our results show that haplotyping can be a useful tool for prenatal diagnosis in diseases with genetic heterogeneity.

(PDF emailed within 0-6 h: $19.90)

Accession: 046211986

Download citation: RISBibTeXText

PMID: 10694685

DOI: 10.1002/(sici)1097-0223(200002)20:2<132::aid-pd765>3.0.co;2-0

Related references

Prenatal exclusion of lamellar ichthyosis based on identification of two new mutations in the transglutaminase 1 gene. Journal of Investigative Dermatology 110(2): 179-182, 1998

Prenatal diagnosis of lamellar ichthyosis by direct mutational analysis of the keratinocyte transglutaminase gene. Prenatal Diagnosis 17(5): 483-486, 1997

Lamellar ichthyosis with a novel homozygous C-terminal mutation in the transglutaminase-1 gene. International Journal of Dermatology 48(11): 1195-1197, 2010

A novel nonsense mutation of transglutaminase 1 gene in a pedigree with lamellar ichthyosis. Journal of Investigative Dermatology 121(1): 0640, July, 2003

Identification and clinical consequences of a novel mutation in the gene for transglutaminase 1 in a patient with lamellar ichthyosis. Clinical and Experimental Dermatology 40(8): 921-923, 2016

Analyses of the transglutaminase 1 gene mutation and ultrastructural characteristics in a Japanese patient with lamellar ichthyosis. Journal of Dermatological Science 24(2): 119-125, November, 2000

A nonsense mutation in transglutaminase 1 gene and loss of enzyme activity in a family with lamellar ichthyosis. Zhonghua Pifuke Zazhi 36(9): 487-489, September 15, 2003

Mutation screening of the transglutaminase 1 gene in patients with lamellar ichthyosis and other congenital recessive ichthyoses using dideoxy fingerprinting. Journal of Investigative Dermatology 106(4): 843, 1996

Strong founder effect for a transglutaminase 1 gene mutation in lamellar ichthyosis and congenital ichthyosiform erythroderma from Norway. European Journal of Human Genetics 6(6): 589-596, 1999

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1. Journal of Investigative Dermatology 127(2): 490-493, 2006

Common mutation in transglutaminase 1 in lamellar ichthyosis. American Journal of Human Genetics 65(4): A491, 1999

Autosomal recessive lamellar ichthyosis: Identification of a new mutation in transglutaminase 1 and evidence for genetic heterogeneity. Human Molecular Genetics 4(8): 1391-1395, 1995

Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. Journal of Investigative Dermatology 117(2): 214-218, 2001