DNA-based prenatal exclusion of harlequin ichthyosis

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DNA-based prenatal exclusion of harlequin ichthyosis Teruki Yanagi, MD, Masashi Akiyama, MD, PhD, Kaori Sakai, MS, Akari Nagasaki, Nobuaki Ozawa, MD, Rika Kosaki, MD, Haruhiko Sago, MD, Hiroshi Shimizu, MD, PhD Journal of the American Academy of Dermatology Volume 58, Issue 4, Pages 653-656 (April 2008) DOI: 10.1016/j.jaad.2007.12.018 Copyright © 2008 American Academy of Dermatology, Inc. Terms and Conditions

Fig 1 Modified PCR amplification and restriction enzyme digestion for detection of the maternal mutation. A, Schematic representation of introduction of AvaII restriction site in the maternal mutant allele PCR products. B, Red characters (arrow) indicate splice acceptor site mutation c.3295-2A>G. Primer B contained the mismatched G residue (instead of a T residue; blue character) two bases upstream of the 3′ end. Underlined nucleotides indicate AvaII restriction site. The mutant allele is amplified with primer B and a new AvaII site was introduced in the PCR product from the mutant allele (GGTCC sequence, green characters). B, In the PCR product from the normal allele, the AvaII restriction site was not created. C, After AvaII digestion, the PCR product from the normal allele contains only a 193-bp fragment, whereas the PCR product from the mutant allele is split into 170- and 20-bp fragments. Three bases did not pair because of restriction enzyme digestion. D, Agarose gel electrophoresis of the modified PCR products from the family. Lane 1: Fetus. Lane 2: Father. Lane 3: Mother. The PCR product from the normal allele was not digested by AvaII, whereas that from the mutant allele was completely digested to 170- and 20-bp fragments. The fetus (lane 1) and the father (lane 2) had a single band, indicating that both of them had only normal alleles. Conversely, the mother (lane 3) had two bands of 193- and 170-bp, indicating that she was heterozygous for the mutation c.3295-2A>G. The 20-bp fragments could not be visualized using this gel electrophoresis procedure. Journal of the American Academy of Dermatology 2008 58, 653-656DOI: (10.1016/j.jaad.2007.12.018) Copyright © 2008 American Academy of Dermatology, Inc. Terms and Conditions

Fig 2 Clinical features of proband and ABCA12 mutations in the family. A, Severe hyperkeratosis with fissures covering proband's face and chest. B, Splice acceptor site mutation c.3295-2A>G was found in the proband and the mother (arrows) but not in the fetus. Nonsense mutation p.Arg1950X was detected in the proband, the father, and the fetus (arrows). Journal of the American Academy of Dermatology 2008 58, 653-656DOI: (10.1016/j.jaad.2007.12.018) Copyright © 2008 American Academy of Dermatology, Inc. Terms and Conditions