ABCA12 p.Phe2144Ser
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PMID: 23682801
[PubMed]
Shimizu Y et al: "Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma."
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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.
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ABCA12 p.Phe2144Ser 23682801:0:33
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ABCA12 p.Phe2144Ser 23682801:0:435
status: NEW10 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).
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ABCA12 p.Phe2144Ser 23682801:10:300
status: NEW11 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).
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ABCA12 p.Phe2144Ser 23682801:11:112
status: NEW14 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.
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ABCA12 p.Phe2144Ser 23682801:14:260
status: NEW19 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.
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ABCA12 p.Phe2144Ser 23682801:19:36
status: NEW26 All three missense mutations in the extra-/ intracytoplasmic loops, including p.Phe2144Ser in the present case, underlie congenital ichthyosiform erythroderma (CIE) phenotypes.
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ABCA12 p.Phe2144Ser 23682801:26:80
status: NEW30 In conclusion, we report the novel ABCA12 mutation p.Phe2144Ser in the extracytoplasmic loop in a CIE patient.
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ABCA12 p.Phe2144Ser 23682801:30:53
status: NEW