ABCMdb

PMID: 20672373

Akiyama M
ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts.
Hum Mutat. 2010 Oct;31(10):1090-6., [PubMed]

Sentences

No. Mutations Sentence Comment

50 ABCA12 p.Asn1380Ser The second most common reported ABCA12 mutation is a missense mutation p.Asn1380Ser in Walker A motif of the first ATP-binding cassette, which is essential for the transporter function of ABCA12 [Lefe`vre et al., 2003]. Login to comment 51 ABCA12 p.Asn1380Ser This missense mutation p.Asn1380Ser has been identified in five LI families from Africa (three families from Morocco and two families from Algeria) [Lefe`vre et al., 2003]. Login to comment 52 ABCA12 p.Asn1380Ser Haplotype analysis confirmed that p.Asn1380Ser is a founder mutation in the patients from Morocco/Algeria region [Lefe`vre et al., 2003]. Login to comment 55 ABCA12 p.Gly1651Ser 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 77 ABCA12 p.Arg1514His None of the LI mutations was demonstrated to cause HI phenotype, although one mutation p.Arg1514His was identified to result in both LI and CIE phenotypes (Supp. Table S1). Login to comment 83 ABCA12 p.Arg1514His Mutations in green letters lead to two distinct phenotypes, p.Arg1950Ter and p.Arg2482Ter both result in CIE and HI phenotypes; p.Arg1514His underlies both CIE and LI phenotypes. Login to comment 95 ABCA12 p.Arg1514His Only one mutation p.Arg1514His was reported to underlie both CIE and LI phenotypes (Supp. Table S1). Login to comment 106 ABCA12 p.Ser387Asn One patient was a homozygote for a splice site mutation c.3295À2A4G [Akiyama et al., 2005] and another patient was a compound heterozygote for p.Ser387Asn and p.Thr1387del [Akiyama et al., 2006a]. Login to comment 107 ABCA12 p.Ile1494Thr Only one heterozygous mutation p.Ile1494Thr was identified in the other patient [Natsuga et al., 2007]. Login to comment