http://purl.uniprot.org/citations/22435431 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/22435431 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundAutosomal recessive congenital ichthyosis (ARCI) is a rare, nonsyndromic, heterogeneous disorder of cornification. It is divided into three clinical subtypes: lamellar ichthyosis (LI); congenital ichthyosiform erythroderma; and harlequin ichthyosis. In the majority of patients, LI is caused by transglutaminase-1 (TGase1) deficiency resulting from mutations in both copies of the transglutaminase 1 (TGM1) gene in chromosome 14.Case reportWe report a patient with a severe LI phenotype who has a homozygous putative splicing mutation in the TGM1 gene. Our aim is to assess the pathologic effect of the TGM1 c.984+1G>A by splicing assays and bioinformatic tools.Resultsc.984+1G>A mutation created two alternative TGM1 mRNA splice variants that included 30 or 32 nucleotides of the 5' of intron 6. At the protein level, the partial in-frame aberrant transcript retaining 30 bp of intron 6 led to the insertion of 10 amino acids (p.Met329_Val330ins10) at the catalytic core domain of TGM1 protein (codons 247-572), whereas the transcript with the insertion of 32 nucleotides is predicted to encode a truncated protein (p.Val330MetfsX12).ConclusionOur splicing assay, together with bioinformatic prediction tools, supports the pathological effect of the recently identified c.984+1G>A mutation in the TGM1 gene and unravels the molecular mechanism by which c.984+1G>A acts."xsd:string |
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http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Carracedo A."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Vega A."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Beiras A."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Toribio J."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Fachal L."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Ginarte M."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Rodriguez-Pazos L."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/author | "Suarez-Penaranda J.M."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/name | "Int J Dermatol"xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/pages | "427-430"xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/title | "Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis."xsd:string |
http://purl.uniprot.org/citations/22435431 | http://purl.uniprot.org/core/volume | "51"xsd:string |
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