کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10833974 | 1065836 | 2011 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Large contiguous gene deletions in Sjögren-Larsson syndrome
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کلمات کلیدی
SLSCGHOMIMALDH3A1Fatty aldehyde dehydrogenase - آلدئید دی هیدروژناز چربیFatty aldehyde - آلدهید چربichthyosis - ایشتیوزcomparative genomic hybridization - ترکیب هیبریداسیون ژنومی مقایسه شدهmutation - جهشSmith–Magenis syndrome - سندرم اسمیت-مگنیسFALDH - فالدfluorescence in situ hybridization - فلورسانس در هیبریداسیون در محلFish - ماهیSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSMS - پیامکSNP - چندریختی تک-نوکلئوتید
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Large contiguous gene deletions in Sjögren-Larsson syndrome Large contiguous gene deletions in Sjögren-Larsson syndrome](/preview/png/10833974.png)
چکیده انگلیسی
Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing defects and complex nucleotide changes. We now describe 2 SLS patients whose disease is caused by large contiguous gene deletions of the ALDH3A2 locus on 17p11.2. The deletions were defined using long distance inverse PCR and microarray-based comparative genomic hybridization. A 24-year-old SLS female was homozygous for a 352-kb deletion involving ALDH3A2 and 4 contiguous genes including ALDH3A1, which codes for the major soluble protein in cornea. Although lacking corneal disease, she showed severe symptoms of SLS with uncommon deterioration in oral motor function and loss of ambulation. The other 19-month-old female patient was a compound heterozygote for a 1.44-Mb contiguous gene deletion and a missense mutation (c.407CÂ >Â T, P136L) in ALDH3A2. These studies suggest that large gene deletions may account for up to 5% of the mutant alleles in SLS. Geneticists should consider the possibility of compound heterozygosity for large deletions in patients with SLS and other inborn errors of metabolism, which has implications for carrier testing and prenatal diagnosis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 356-361
Journal: Molecular Genetics and Metabolism - Volume 104, Issue 3, November 2011, Pages 356-361
نویسندگان
Holly Engelstad, Gael Carney, Dana S'Aulis, Janae Rise, Warren G. Sanger, M. Katharine Rudd, Gabriele Richard, Christopher W. Carr, Omar A. Abdul-Rahman, William B. Rizzo,