ABCMdb

PMID: 21168995

Umemoto H, Akiyama M, Yanagi T, Sakai K, Aoyama Y, Oizumi A, Suga Y, Kitagawa Y, Shimizu H
New insight into genotype/phenotype correlations in ABCA12 mutations in harlequin ichthyosis.
J Dermatol Sci. 2011 Feb;61(2):136-9. Epub 2010 Dec 1., [PubMed]

Sentences

No. Mutations Sentence Comment

35 ABCA12 p.Gly1179Arg Patient 2 carried a maternal missense mutation p.Gly1179Arg on the other locus (Fig. 1h). Login to comment 36 ABCA12 p.Gly1179Arg To confirm the presence of the mutation p.Gly1179Arg in Patient 2, we performed restriction enzyme digestion analysis using BclI (NEW ENGLAND BioLabs). Login to comment 38 ABCA12 p.Gly1179Arg The 255-bp PCR products from wild type alleles were not digested by BclI, although the PCR products from the allele with the mutation p.Gly1179Arg were digested into 173- and 82-bp fragments. Login to comment 40 ABCA12 p.Gly1179Arg In contrast, the PCR product after BclI digestion from the mother of Patient 2 showed 255-, 173- and 82-bp bands, which indicated that she was heterozygous for the p.Gly1179Arg missense mutation (supplementary Fig. S1). Login to comment 53 ABCA12 p.Gly1179Arg Patient 2 harboured two ABCA12 mutations, p.Arg1515X and p.Gly1179Arg, and both her parents were heterozygous carriers of these defects. Login to comment 59 ABCA12 p.Gly1179Arg The mutation p.Gly1179Arg might result in major loss of ABCA12 function and/or structure, leading to the severe phenotype in Patient 2. Login to comment 63 ABCA12 p.Gly1179Arg The marked difference in the clinical severity of the two patients indicated that the p.Gly1179Arg has far bigger deleterious functional effects than c.3295-2A>G. Login to comment