Research Article
A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis
Table 1
Microsatellite data collected for the four affected individuals with ichthyosis: the affected individuals were all found to be homozygous for the c.G4676T, p.Gly1559Val mutation. It should be noted that the individual ICH103 showed a slight shift in the haplotype when compared to family 2. This could be due to the fact that the variants developed independently in both families. However, it may also mean that the variants were inherited by a common ancestor and have undergone a recombination event between ABCA12 and DSS164.
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