Aproximación genética al estudio de las ictiosis

Autosomal recessive congenital ichthyosis (ICAR ) are rare disorders of keratinization that are included in non- syndromic forms of ichthyosis . Currently included in this group harlequin ichthyosis, lamellar ichthyosis , congenital ichthyosiform erythroderma , baby autorresolutivo collodion ichthyosis in swimsuit . From the genetic point of view , the ICAR are very heterogeneous . So far have been described pathogenic mutations in 6 different genes in 78% of the population affected: TGM1 ( 32%), NIPAL4 ( 16%), ALOX12B ( 12%), CYP4F22 ( 8%), ALOXE3 (5% ) and ABCA12 (5%) . In our study 29 patients from various areas of the Spanish geography, but one of the families that came from Ukraine were included . 76 % had some nucleotide variation in genes analyzed: 38% of them in the TGM1 gene , 21% in ALOX12B ; 3.5% in ALOXE3 ; 3.5% in NIPAL4 , and 10 % in CYP4F22 . In 24% of patients remaining mutations were detected, similar to those described previously in the literature frequencies. The discovery of pathogenic mutations confirms new genetic variability of disease and facilitates diagnosis and carrier detection . The observation of up to 24% of cases in ICAR phenotypically compatible with the mutations not found indicating that the study of other genes that may be involved in the development of the disease is required. The genetic studies in large cohorts of patients with ICAR and comprehensive collection of phenotypic data is of great importance to conduct a clinical- biological correlation to improve the classification of these diseases. Autosomal recessive congenital ichthyosis (ICAR ) are rare disorders of keratinization that are included in non- syndromic forms of ichthyosis . Currently included in this group harlequin ichthyosis, lamellar ichthyosis , congenital ichthyosiform erythroderma , baby autorresolutivo collodion ichthyosis in swimsuit .

Author

• Ciria Abad, Sara

• Tesis y disertaciones académicas
• Universidad de Salamanca (España)
• Academic dissertations
• genetica

Identifier

hdl:10366/122931

OAI identifier oai:identifier

oai:gredos.usal.es:10366/122931