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Gene Mutation Is Main Cause of Harlequin Ichthyosis

Study more firmly establishes gene's association with disease

TUESDAY, Nov. 28 (HealthDay News) -- Mutations in the ABCA12 gene have been found in additional patients with harlequin ichthyosis, more firmly establishing the gene as the main cause of the disease, according to a report in the November issue of the Journal of Investigative Dermatology. The finding could lead to prenatal or preimplantation genetic tests for carriers of the mutation.

David P. Kelsell, Ph.D., of the University of London in the United Kingdom, and colleagues characterized mutations in ABCA12 in 14 individuals with harlequin ichthyosis. The authors note that previous studies have shown that mutations in the gene, which encodes an adenosine triphosphate-binding cassette transporter, are associated with the disease.

The researchers found that all patients had mutations in ABCA12, with 11 patients having mutations in both alleles and the remaining three having mutations in only one allele. The majority of mutations resulted in nonsense substitution or frameshift mutations, according to the study. A patient from a previous study who had no mutations was found to have a heterozygous deletion of exon 8.

"The increased number of patients with mutations in the ABCA12 gene provides further evidence that ABCA12 mutations are the main cause of harlequin ichthyosis and will allow prenatal diagnosis and/or preimplantation genetic testing to be performed for most if not all harlequin ichthyosis carriers," Kelsell and colleagues conclude.

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