PMID: 19664001

Castiglia D, Castori M, Pisaneschi E, Sommi M, Covaciu C, Zambruno G, Fischer J, Magnani C
Trisomic rescue causing reduction to homozygosity for a novel ABCA12 mutation in harlequin ichthyosis.
Clin Genet. 2009 Oct;76(4):392-7. Epub 2009 Aug 3., [PubMed]
Sentences
No. Mutations Sentence Comment
7 ABCA12 p.Arg287*
X
ABCA12 p.Arg287* 19664001:7:106
status: NEW
view ABCA12 p.Arg287* details
 The diagnosis was confirmed by ABCA12 molecular analysis, which disclosed the novel homozygous mutation p.R287X. Login to comment 56 ABCA12 p.Arg287*
X
ABCA12 p.Arg287* 19664001:56:57
status: NEW
view ABCA12 p.Arg287* details
 This nucleotide change produces a nonsense codon (i.e. p.R287X) which predicts the synthesis of a truncated nonfunctional protein. Login to comment 64 ABCA12 p.Arg287*
X
ABCA12 p.Arg287* 19664001:64:80
status: NEW
view ABCA12 p.Arg287* details
 Direct sequencing of ABCA12 exon 7 demonstrates the presence of the c.859C>T (p.R287X) nonsense mutation (arrows) at the homozygous state in the proband (middle) and at the heterozygous state in the father (left), while the same variant is absent in the mother (right). Login to comment