ABCMdb

ABCA12 p.Gly1651Ser

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Publications

PMID: 12915478 [PubMed] Lefevre C et al: "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."

No. Sentence Comment

64 Origin of families and mutations Family Number of patients Degree of consanguinity Origin Mutation Effect Exon number A 3 1st Morocco 4142G!A G1381E 28 C 1 1st Morocco 4139A!G N1380S 28 D 1 1st Morocco 4139A!G N1380S 28 E 1 1st Morocco 4139A!G N1380S 28 F 3 1st Algeria 4951G!A G1651S 32 G 3 No Algeria 4139A!G N1380S 28 4851G!A G1651S 32 H 1 1st Mali 4541G!A R1514H 30 I 1 1st Algeria 4139A!G N1380S 28 J 1 1st Algeria 4615G!A E1539K 31 neonate mouse skin (AK028781, AK029031). Login to comment
75 All of the mutations were missense mutations and were found in the region of the protein encoded by exons 28-32: 4139A!G (N1380S) and 4142G!A (G1381E) in exon 28, 4541G!A (R1514H) in exon 30, 4615G!A (E1539K) in exon 31 and 4951G!A (G1651S) in exon 32. Login to comment
78 Two other families from Algeria presented the G1651S mutation (including the family G of the compound heterozygote) and a common haplotype (Fig. 2). Login to comment

PMID: 21729033 [PubMed] Fukuda S et al: "Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma."

No. Sentence Comment

29 Patient 4 had compound heterozygosity Table 1 Summary of mutation analysis of ABCA12 in the present study Patient Age, sex Mutation Maternal Paternal 1 3 years, girl Compound heterozygous p.Thr1575Pro (c.4723A>C) c.6031delG 2 9 years, girl Compound heterozygous p.Arg986Trp (c.2956C>T) c.5940-1G>C 3 4 months, boy Compound heterozygous p.Asn1380Ser (c.4139A>G) c.5128+3A>G 4 3 months, boy Compound heterozygous p.Thr1575Pro (c.4723A>C) p.Gly1651Ser (c.4951G>A) (a) (b) (c) (d) (e) Fig 1. Login to comment
35 Ó 2011 The Authors BJD Ó 2011 British Association of Dermatologists 2012 166, pp212-235 Correspondence of missense mutations [(p.Thr1575Pro)+(p.Gly1651Ser)]. Login to comment
38 Two recurrent mutations (p.Asn1380Ser and p.Gly1651Ser) have been reported previously in LI2.6 These mutations were not found in 200 normal, unrelated Japanese alleles. Login to comment
66 Patient 1 with severer features had a heterozygous truncation mutation (c.6031delG) on another allele, while patient 4, with a milder phenotype, had another heterozygous missense mutation (p.Gly1651Ser). Login to comment

PMID: 20672373 [PubMed] Akiyama M et al: "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."

No. Sentence Comment

55 As for the other five mutations, p.Trp1294Ter, p.Gly1651Ser, p.Tyr1090Ter, c.2025delG, and p.Trp1744Ter were found in two independent families with Pakistani [Rajpar et al., 2006; Thomas et al., 2006], Algeria [Lefe`vre et al., 2003], Albanian/ Bosnian [Thomas et al., 2008], Anglo-Saxon [Thomas et al., 2006], and native American [Kelsell et al., 2005] origins, respectively. Login to comment

PMID: 23682801 [PubMed] Shimizu Y et al: "Novel ABCA12 missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma."

No. Sentence Comment

14 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
27 The homozygous mutation p.Asn1380Ser and the compound heterozygous mutations p.Asn1380Ser and p.Gly1651Ser underlie lamellar ichthyosis (LI). Login to comment