ABCMdb

PMID: 22226084

Wang L, He F, Bu J, Zhen Y, Liu X, Du W, Dong J, Cooney JD, Dubey SK, Shi Y, Gong B, Li J, McBride PF, Jia Y, Lu F, Soltis KA, Lin Y, Namburi P, Liang C, Sundaresan P, Paw BH, Li W, Li DY, Phillips JD, Yang Z
ABCB6 mutations cause ocular coloboma.
Am J Hum Genet. 2012 Jan 13;90(1):40-8. Epub 2012 Jan 5., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCB6 p.Leu811Val The Leu811Val mutation was identified in seven affected members of the family and was absent in six unaffected members from three generations. Login to comment 5 ABCB6 p.Ala57Thr Sequence analysis was performed on the ABCB6 exons from 116 sporadic cases of microphthalmia with coloboma (MAC), isolated coloboma, and aniridia, and an additional mutation (A57T) was identified in three patients with MAC. Login to comment 28 ABCB6 p.Leu811Val Mutations in ABCB6 and Clinical Photographs of Patients with Coloboma (A) Pedigree and segregation of the Leu811Val mutation in the Chinese family affected by coloboma. Login to comment 32 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr (F-H) Two mutations in ABCB6 and their sequencing tracing, including Leu811Val (F) in the Chinese family affected by coloboma and Ala57Thr (G) in the three Indian patients who have microphthalmia and coloboma. Login to comment 64 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr The Leu811Val and Ala57Thr mutations were introduced into the WT ABCB6 pcDNA3.1(þ)/Myc-His A construct by PCR-based site-directed mutagenesis. Login to comment 87 ABCB6 p.Leu811Val ABCB6 p.Leu811Val The nucleotide alteration results in a change of leucine to valine at position 811 (Leu811Val) of ABCB6 (Figure 1F). Login to comment 97 ABCB6 p.Ala57Thr 169 G>A), and the nucleotide change resulted in an alanine to threonine amino acid change at position 57 (Ala57Thr) of ABCB6 (Figure 1G). Login to comment 140 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr Transcription factors such as PAX6, SOX2, OTX2, RAX, and SIX3 interact and provide transcriptional oversight to other coloboma-associated mutations in genes that play a pivotal role in spatial and temporal development of the eye.8,10-12,15,19 Here, we identified two mutations (Leu811Val and Ala57Thr) in ABCB6. Login to comment 154 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr These phenotypes can be rescued by the coinjection of WT ABCB6 mRNA (G and H), but the phenotypes could not be rescued by coinjection of the human mRNA containing either the Leu811Val (I and J) or the Ala57Thr (K and L) mutation. Login to comment