ABCA12 p.Thr345Pro
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PMID: 19262603
[PubMed]
Sakai K et al: "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."
No.
Sentence
Comment
45
(À) This study NBCIE8 52 M p.[Arg1514His]+[=] (À) This study NBCIE9 0 M (À) p.[Arg389His]+c.[2111delA] Akiyama et al. (2001a) NBCIE10 37 F p.[Thr345Pro]+[=] (À) Natsuga et al. (2007) NBCIE11 42 M p.[Ile1494Thr]+[?]
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ABCA12 p.Thr345Pro 19262603:45:142
status: NEWX
ABCA12 p.Thr345Pro 19262603:45:157
status: NEW
PMID: 18284401
[PubMed]
Akiyama M et al: "Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma."
No.
Sentence
Comment
56
In general, homozygotes or compound heterozygotes harbouring ABCA12 truncation mutations usually exhibit an HI phenotype.2,7-9 To date, nine LI families have been reported to harbour ABCA12 mutations and all the patients were either homozygotes (eight families) or compound heterozygotes (one family) for missense mutations located in the first ATP-binding cassette.3 Only two patients with ABCA12 mutations have been reported to show a NBCIE phenotype.10 Mutations on both alleles were shown only in one patient out of the two.10 The patient was a homozygote for the missense mutation p.Thr345Pro affecting neither the ATP-binding cassette nor the transmembrane domain.10 The present NBCIE patient also had a missense mutation separate from the ATP-binding cassettes and the transmembrane domains on one allele, although a nonsense mutation ablating one ATP-binding cassette was found on the other allele.
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ABCA12 p.Thr345Pro 18284401:56:588
status: NEW