ArticleMedical principles and practice : international journal of the Kuwait University, Health Science Centre2013
Transglutaminase-1 mutations in Omani families with lamellar ichthyosis.
Article in Medical principles and practice : international journal of the Kuwait University, Health Science Centre, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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4 citing papers in PubMed, 10 citations in OpenAlex.
- Novel Compound Heterozygous Variants inJournal of clinical medicine · 2026Article
- A novel mutation in the transglutaminase-1 gene identified in a collodion baby: A case report.The Journal of international medical research · 2025Article
- Identification andMedicina (Kaunas, Lithuania) · 2023Article
- Compound Heterozygous Mutations inPharmacogenomics and personalized medicine · 2022Article
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5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the molecular basis of familial ichthyosis in three Omani families. SUBJECTS AND
methodsNine patients from three consanguineous families, A, B, and C, were born with typical features of lamellar ichthyosis subtype including collodion membrane and maintained ectropion, and epidermal scaling through their childhood. The 4 patients from family B had more severe symptoms requiring neonatal critical care and subsequent regular treatment with emollients, eye lubricants, and low-dose acitretin. DNA was extracted from peripheral blood by standard methods. The samples were initially genotyped to screen known loci linked to recessive ichthyosis on chromosomes 2q33-32 (ABCA12), 14q11 (TGM1), and 19p12-q12 using commercially supplied polymorphic fluorescent microsatellite markers. TGM1 was analyzed by direct sequencing for disease-associated mutations.
resultsTwo known pathogenic mutations in TGM1 were detected: p.Gly278Arg in families A and B and p.Arg396His in family C. These two mutations were segregating in an autosomal recessive mode of inheritance.
conclusionTwo known pathogenic TGM1 mutations were detected in three large consanguineous Omani families with lamellar ichthyosis. This study confirmed the geographic distribution of known mutations to an apparently unrelated population.
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