ABCMdb

ABCA12 p.Tyr1090*

None has been submitted yet.

Publications

PMID: 17986308 [PubMed] Thomas AC et al: "Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis."

No. Sentence Comment

11 The recurrent Pakistani mutation 7322delC was also isolated in two more patients since our previous studies.4,5 Three novel premature stop codon nonsense substitutions are also described here, which are R1225X, Y1090X and W601X. Login to comment
27 Additionally, two unrelated white-skinned patients from the U.K. were both heterozygous for the mutation 2025delG in exon 16 that is predicted to result in frameshift mutations.5 As previously reported, two unrelated HI-affected patients of Navajo American descent were found to possess the mutation W1744X in exon 34 which is predicted to change a tryptophan to a premature stop codon at this amino acid residue, again producing a truncated protein.4,5 The ABCA12 mutation Y1090X residing in exon 23 (tyrosine to a premature stop codon) has also been identified in two unrelated patients. Login to comment
28 In one case from Scandinavia, the patient of Bosnian decent is a compound heterozygote with the mutation Y1090X on one allele and R1225X on the other. Login to comment
29 However, another patient of Albanian descent has this mutation (Y1090X) in homozygous form. Login to comment
35 Table 1 Details of new ABCA12 mutations in 12 patients Patient Mutation type Ethnic group Exon Mutation details 1 Frameshift I38HisfsX64 Canadian caucasian 2 107insT TTATGGCCAGTCATTA[T]TTTTCATAATTTTGGC 2 Splice site Unknown 26 c.3829+1gfia AGGAATGTCTTCCCAG[g /a]tat (lower case indicates intronic sequence) 3 Frameshift Heterozygous D1709fsX1712 Syrian 33 5125_5128delGATG CAATTTCACAGACAGA[GATG]ACAAAATCCTGACAAG Unknown second mutation 4 Frameshift G1421fsX1459 French 29 4262delG GTACGGAAGAACATGG[G]AGTCTGTATGCAGCAC 5 Frameshift P2141del Swiss 44 6443_6445delCAC ATTTTCCTGATTTTCC[CAC]AATTCTGTTTTGGCTA 6 Splice site Heterozygous Eritrean /Jamaican 37 GAGTTTGTCCAAAAAA(G /C)gtaaaataatctgttt Unknown second mutation 7 Nonsense substitution Middle Eastern /Arab 15 W601X ATTTCTCAGGTGTTCT[G /A]GCTGCATTCCTGTGAT 8 Nonsense substitution Compound heterozygote Bosnian 25 23 R1225X AGCCAATACATTGCA[C /T]GACGATACGAAGAAC Y1090X AAAAAAGCTTGTCTA[T /G]GAGAAAGACCTCCGGC Parents 9 and 10 Nonsense substitutions S244lfsX2463 British Pakistani 49 7322delC TACAGAACAAATGTTC[C]GTCATCCTCACATCTC 11 Nonsense substitution Albanian 23 Y1090X AAAAAAGCTTGTCTA[T /G]GAGAAAGACCTCCGGC 12 Frameshift S244lfsX2463 British Pakistani 49 7322delC TACAGAACAAATGTTC[C]GTCATCCTCACATCTC 13 Splice site Irish /Polish mother, Italian /German father After exon 34 c.5381+3delAA AGCCTTCTATGCgt[aa]gtttctttctgttaact (deletion in intron) X indicates a stop codon, del indicates a deletion and ins indicates an insertion. Login to comment