ABCA12 p.Arg1225*
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PMID: 17986308
[PubMed]
Thomas AC et al: "Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis."
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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.
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ABCA12 p.Arg1225* 17986308:11:203
status: NEW28 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.
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ABCA12 p.Arg1225* 17986308:28:130
status: NEW35 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.
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ABCA12 p.Arg1225* 17986308:35:867
status: NEW