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Clinical and molecular genetics study of recessive autosomal congenital icthyosis in Spain

16th national competition for scientific and technical research

Rare diseases

Senior Researcher : Ana Vega Gliemmo

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Research Centre or Institution : Fundación Pública Gallega de Medicina Genómica. Santiago de Compostela.


The overall aim of this project is to identify all Spanish patients with congenital autosomal recessive icthyosis (ICAR), as well as to characterise them clinically and genetically. The project started in June, 2012. During these months, the group has concentrated on publicising the project with the objective of identifying the Spanish patients involved, including them in the protocol and studying a new gene associated with the disease (PNPLA1).


  • On June 22nd, the project was presented at the 1st Conference of Experts on Icthyosis ("Niño Jesús" Hospital in Madrid).
  • Contact was made with the Spanish Icthyosis Association (Asociación Española de Ictiosis (ASIC)). The project was presented at its 5th Work Session (State Reference Centre for People with Rare Diseases and their Relatives, Burgos, December 6th‑9th, 2012).
  • The study was communicated to the Spanish Academy for Dermatology and Venereal Disease, which distributed to the information on October 25th, 2012, to all Spanish dermatologists in the Academy's monthly bulletin (Info AEDV nº 51).


  • The extraction and sending of samples to the co-ordinating centre has been included in the protocol.
  • The extraction and storage of DNA has been included in the protocol.
  • The sample collection has been registered with the King Charles III Institute (registration nº C.0001349).

Genes associated with ICAR in the Spanish population

A new gene, PNPLA1, was recently identified as causing ICAR (Grall et al., 2012). This gene was studied in the families of Galician patients without mutations in the TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and ABCA12 genes. One of these families presents an alteration in the homozygosis of this gene. A sample has been requested from the brothers of the patient (healthy and affected) to discover the involvement of the variant of the disease that has been identified.

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