Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in Autosomal Recessive Congenital Ichthyosis from Galicia (NW Spain): evidence of founder effects.

SUMMARY

Background:  Mutations in six genes have been identified in autosomal recessive congenital ichthyosis (ARCI). To date, few studies have analyzed the spectrum of these mutations in specific populations.


Objectives:  We have studied the characteristics of ARCI patients in Galicia (NW Spain).


Methods:  We recruited patients by contacting all dermatology departments of Galicia and the Spanish patient organization for ichthyosis. TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 were analyzed in the patients and their relatives.


Results:  We identified 23 ARCI patients and estimated a prevalence of 1:122000. Twenty of the patients were studied. Seventeen of ...

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