ArticleAmerican journal of human genetics1998
Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 81 citations in OpenAlex.
- Compound Heterozygous Mutations inPharmacogenomics and personalized medicine · 2022Article
- Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2013Article
- Transglutaminase1 preferred substrate peptide K5 is an efficient tool in diagnosis of lamellar ichthyosis.The American journal of pathology · 2010Article
- Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Human mutation · 2009Review
- Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.Journal of medical genetics · 2009Article
- Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism.Journal of lipid research · 2008Review
- Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis.Journal of medical genetics · 2007Article
- A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis.Journal of molecular modeling · 2007Article
- Development of ichthyosiform skin compensates for defective permeability barrier function in mice lacking transglutaminase 1.The Journal of clinical investigation · 2002Article
- Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity.American journal of human genetics · 2001Article
- Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity.American journal of human genetics · 2000Article
- Assignment of a novel locus for autosomal recessive congenital ichthyosis to chromosome 19p13.1-p13.2.American journal of human genetics · 2000Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Autosomal recessive lamellar ichthyosis is a severe congenital disorder of keratinization, characterized by variable erythema of the whole body surface and by different scaling patterns. Recently, mutations have been identified in patients with lamellar ichthyosis in the TGM1 gene coding for keratinocyte transglutaminase, and a second locus has been mapped to chromosome 2. We have now analyzed the genotype/phenotype correlation in a total of 14 families with lamellar ichthyosis. Linkage analyses using microsatellites in the region of the TGM1 gene confirmed genetic heterogeneity. In patients not linked to the TGM1 gene, the second region identified on chromosome 2 and a further candidate region on chromosome 20 were excluded, confirming as well the existence of at least three loci for lamellar ichthyosis. Sequence analyses of the TGM1 gene in families compatible with linkage to this locus revealed seven different missense mutations, five of these unpublished so far, and one splice mutation. No genotype/phenotype correlation for mutations in the TGM1 gene was found in this group of patients, which included two unrelated patients homozygous for the same mutation. Similarly, no clear difference in the clinical picture was seen between patients with TGM1 mutations and those unlinked to the TGM1 locus. Comparison of genetic and clinical classifications for patients with lamellar ichthyosis shows no consistency and thus indicates that clinical criteria currently in use cannot discriminate between the molecularly different forms of the disease.
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