ABCMdb

PMID: 23682801

Shimizu Y, Sugiura K, Aoyama Y, Ogawa Y, Hitomi K, Iwatsuki K, Akiyama M
Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma.
J Dermatol. 2013 Jul;40(7):581-2. doi: 10.1111/1346-8138.12169. Epub 2013 May 19., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA12 p.Phe2144Ser ABCA12 p.Phe2144Ser Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma Dear Editor, Mutations in ABCA12 have been described as causative of autosomal recessive congenital ichthyoses, which include harlequin ichthyosis, congenital ichthyosiform erythroderma (CIE) and lamellar ichthyosis (LI).1,2 Herein, we report that a compound heterozygote for ABCA12 mutations, including a novel missense mutation c.6431T>C (p.Phe2144Ser), exhibited a typical CIE phenotype. Login to comment 10 ABCA12 p.Asn1380Ser ABCA12 p.Phe2144Ser Oligonucleotide primers and polymerase chain reaction conditions used for amplification of all ABCA12 exons and exon-intron borders were originally derived from the report by Lef evre et al.3 Two heterozygous ABCA12 mutations were identified in the patient: the novel missense mutation c.6431T>C (p.Phe2144Ser) in exon 44, which was not detected in the 100 control alleles (50 individuals; data not shown), and the known missense mutation c.4139A>G (p.Asn1380Ser) in exon 28 (Fig. 1c). Login to comment 11 ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Phe2144Ser p.Asn1380Ser was previously reported as an LI-causative mutation.3 p.Asn1380Ser was present in the mother and p.Phe2144Ser was demonstrated as paternal (data not shown). Login to comment 14 ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Gly1651Ser ABCA12 p.Gly1651Ser ABCA12 p.Phe2144Ser The homozygous mutation p.Asn1380Ser and the compound heterozygous mutations p.Asn1380Ser and p.Gly1651Ser were previously reported to underlie typical LI phenotypes.3 In this regard, we hypothesized that the difference between p.Asn1380Ser/p.Gly1651Ser and p.Phe2144Ser may determine whether the phenotype is LI or CIE. Login to comment 19 ABCA12 p.Trp1235Ser ABCA12 p.Phe2144Ser ABCA12 p.Gly1136Asn Two mutations of p.Gly1136Asn and p.Phe2144Ser are in the extracytoplasmic loops between the transmembrane domains, and the other mutation, p.Trp1235Ser, is in the intracytoplasmic loop (a) (b) (c) (d) Figure 1. Login to comment 26 ABCA12 p.Phe2144Ser All three missense mutations in the extra-/ intracytoplasmic loops, including p.Phe2144Ser in the present case, underlie congenital ichthyosiform erythroderma (CIE) phenotypes. Login to comment 27 ABCA12 p.Asn1380Ser ABCA12 p.Asn1380Ser ABCA12 p.Gly1651Ser The homozygous mutation p.Asn1380Ser and the compound heterozygous mutations p.Asn1380Ser and p.Gly1651Ser underlie lamellar ichthyosis (LI). Login to comment 28 ABCA12 p.Asn1380Ser Compound heterozygous mutations p.Asn1380Ser and p.Phe2144 underlie CIE (the present case; asterisk). Login to comment 30 ABCA12 p.Phe2144Ser In conclusion, we report the novel ABCA12 mutation p.Phe2144Ser in the extracytoplasmic loop in a CIE patient. Login to comment