ABCMdb

PMID: 21729033

Fukuda S, Hamada T, Ishii N, Sakaguchi S, Sakai K, Akiyama M, Shimizu H, Masuda K, Izu K, Teye K, Tsuruta D, Karashima T, Nakama T, Yasumoto S, Hashimoto T
Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma.
Br J Dermatol. 2012 Jan;166(1):218-21. doi: 10.1111/j.1365-2133.2011.10516.x. Epub 2011 Sep 29., [PubMed]

Sentences

No. Mutations Sentence Comment

27 ABCA12 p.Thr1575Pro Patient 1 had compound heterozygosity of missense /small deletion mutations [(p.Thr1575Pro)+(c.6031delG)]. Login to comment 28 ABCA12 p.Asn1380Ser ABCA12 p.Arg986Trp Patients 2 and 3 had compound heterozygosity of missense /splice-site mutations [(p.Arg986Trp)+(c.5940-1G>C), (p.Asn1380Ser)+(c.5128+ 3A>G), respectively]. Login to comment 29 ABCA12 p.Asn1380Ser ABCA12 p.Gly1651Ser ABCA12 p.Thr1575Pro ABCA12 p.Thr1575Pro ABCA12 p.Arg986Trp 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 ABCA12 p.Gly1651Ser ABCA12 p.Thr1575Pro 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 37 ABCA12 p.Thr1575Pro ABCA12 p.Arg986Trp Five mutations (p.Thr1575Pro, c.6031delG, p.Arg986Trp, c.5940-1G>C and c.5128+3A>G) have not been reported previously. Login to comment 38 ABCA12 p.Asn1380Ser ABCA12 p.Gly1651Ser 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 63 ABCA12 p.Arg1514His ABCA12 p.Asn1380Ser ABCA12 p.Ile1494Thr Only three of 17 mutations (p.Asn1380Ser, p.Ile1494Thr and p.Arg1514His) were located in the first nucleotide-binding folds. Login to comment 65 ABCA12 p.Thr1575Pro The mutation p.Thr1575Pro was identified in two unrelated patients with different clinical severity. Login to comment 66 ABCA12 p.Gly1651Ser 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