ABCA12 p.Arg287*
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[hide] Trisomic rescue causing reduction to homozygosity ... Clin Genet. 2009 Oct;76(4):392-7. Epub 2009 Aug 3. 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., [PMID:19664001]
Abstract [show]
Harlequin ichthyosis (HI) is the most severe and often lethal form of congenital ichthyosis, characterized by abnormal desquamation and extreme skin thickening and hardening over the entire body. It is caused by recessive loss-of-function mutations in the ABCA12 gene located on chromosome 2q34. Here, we report a sporadic HI patient born prematurely due to severe growth delay and oligohydramnios. The diagnosis was confirmed by ABCA12 molecular analysis, which disclosed the novel homozygous mutation p.R287X. Microsatellite analysis and parental segregation study showed that the disease resulted from complete paternal isodisomy. In addition, chorionic villus karyotyping revealed a non-mosaic chromosome 2 trisomy, while postnatal peripheral blood karyotype resulted normal female. Thus, these findings indicate that trisomic rescue is one step of the mutational cascade leading to reduction to homozygosity for the ABCA12 mutation in the embryo. Our case is the first reported HI patient in whom the disease is due to uniparental isodisomy.
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No. Sentence Comment
7 The diagnosis was confirmed by ABCA12 molecular analysis, which disclosed the novel homozygous mutation p.R287X.
X
ABCA12 p.Arg287* 19664001:7:106
status: NEW56 This nucleotide change produces a nonsense codon (i.e. p.R287X) which predicts the synthesis of a truncated nonfunctional protein.
X
ABCA12 p.Arg287* 19664001:56:57
status: NEW64 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).
X
ABCA12 p.Arg287* 19664001:64:80
status: NEW