ABCMdb

ABCA12 p.Gly1136Asp

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Publications

PMID: 19262603 [PubMed] Sakai K et al: "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."

No. Sentence Comment

46 (À) Natsuga et al. (2007) NBCIE12 2 M p.[Gly1136Asp]+ [Gln1669X] (À) Akiyama et al. (2008) LI1 0 M (À) p.[Arg307Trp]+[=] This study LI2 0 F (À) p.[Arg307Trp]+ c. Login to comment

PMID: 18284401 [PubMed] Akiyama M et al: "Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma."

No. Sentence Comment

31 In the classic NBCIE phenotype, the entire body is covered in fine, white scales over a background of erythrodermic skin.1 Mutations in ABCA12 are known to underlie harlequin ichthyosis (HI)2 and lamellar ichthyosis (LI).3 ABCA12 is a member of a large superfamily of ATP-binding cassette (ABC) transporters, which bind and hydrolyze ATP to transport various molecules across a limiting membrane or into a vesicle.4 The ABCA subfamily members are all thought to be lipid transporters.5 Lack of ABCA12 function subsequently leads to disruption of lamellar granule lipid transport in the upper keratinizing epidermal keratinocytes resulting in malformation of the stratum corneum intercellular lipid layers.2 Here we report that a compound heterozygote harbouring two novel ABCA12 mutations, c.3407G>A (p.Gly1136Asp) and c.5005C>T (p.Gln1669X), exhibited a typical NBCIE phenotype. Login to comment
40 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 Lefe`vre et al.3 and were partially modified for the present study.2 In the patient, a combination of two novel heterozygous ABCA12 mutations, c.3407G>A (p.Gly1136Asp) in exon 24 and a novel nonsense mutation c.5005C>T (p.Gln1669X) in exon 33, were identified (sequence according to GenBank accession no. Login to comment
44 According to the molecular structure of ABCA12,6 the paternal missense mutation c.3407G>A (p.Gly1136Asp) in exon 24 leads to a substitution of a glycine residue at codon position 1136 to an aspartic acid residue, effecting an intracytoplasmic region between the second and the third ABCA12 transmembrane domains. Login to comment
49 mutation p.Gly1136Asp is close to the second transmembrane domain. Login to comment

PMID: 23200509 [PubMed] Takeichi T et al: "Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis."

No. Sentence Comment

56 Interestingly, a compound heterozygote for the two mutations c.5005C>T (p.Gln1669X) and c.3407G>A (p.Gly1136Asp) was previously reported to show a typical CIE phenotype [7]. Login to comment
57 In this regard, we hypothesized that the difference between c.1062-3_1074del16 and c.3407G>A (p.Gly1136Asp) may determine whether the phenotype is HI or CIE. Login to comment