کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5905848 | 1159938 | 2014 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum
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کلمات کلیدی
SNVODDDGJA1SIFTCX43HGMDExome Variant ServerEVSCHDVSDHLHSAVSDMRI - امآرآی یا تصویرسازی تشدید مغناطیسیMagnetic resonance imaging - تصویربرداری رزونانس مغناطیسیMissense mutation - جهش MissenseHypoplastic left heart syndrome - سندرم هیپوپلازی قلب چپodds - شانسfluorescent in situ hybridization - فلورسنت در محل hybridizationFish - ماهیSorting Intolerant From Tolerant - مرتب کردن غیر قابل تحمل از تحملVentricular septal defect - نقص دیواره بین بطنیatrial septal defect - نقص دیواره بین دهلیزیAtrioventricular septal defect - نقص سپتوم اتریواستاتیکASD - نقص سپتوم یا دیوارهی دهلیزیCongenital heart defect - نقص مادرزادی قلبpolymerase chain reaction - واکنش زنجیره ای پلیمرازPCR - واکنش زنجیرهٔ پلیمرازHuman Gene Mutation Database - پایگاه داده جهش ژنتیکی انسانconnexin 43 - کنکنسین 43single nucleotide variant - یک نوع نوکلئوتید تک
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
ژنتیک
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - Further extension of the mutational spectrum](/preview/png/5905848.png)
چکیده انگلیسی
Oculodentodigital dysplasia (ODDD) is a clinically variable genetic disorder caused by mutations of the GJA1 gene, predominantly inherited in an autosomal dominant fashion. In rare cases ODDD can also exhibit autosomal recessive mode of inheritance. The phenotype of ODDD comprises craniofacial (short and narrow palpebral fissure, thin, narrow nose with hypoplastic alae nasi), dental (oligodontia, hypoplastic enamel), and digital abnormalities (syndactyly of finger 4/5, hypoplastic phalanges). Ocular manifestation is typical and involves microphthalmia, microcornea, glaucoma, congenital malformations of iris or vitreous, ectopic pupils or strabismus. To date, only 67 GJA1 mutations have been described to underlie ODDD and most of them (i.e. 97%) represent missense substitutions. In this report, we describe three (two familial and one sporadic) non-consanguineous cases presenting with ODDD features in whom we identified novel missense heterozygous mutations of the GJA1 gene: c.317T>G (p. L106R), c.G139C (p.D47H), and c.C257A (p.S86Y). The first two mutations were inherited from an affected parent, whereas the latter one occurred de novo. The mutations affect highly conserved amino acid residues located in the different portions of the GJA1 protein. Our report broadens the spectrum of probably pathogenic mutations associated with ODDD phenotype and demonstrates that the amino acid substitutions at highly conserved positions 47, 86, 106 may affect protein functioning and lead to the development of this syndrome. Together with molecular data, we provide a brief clinical description of the affected individuals.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 539, Issue 1, 10 April 2014, Pages 157-161
Journal: Gene - Volume 539, Issue 1, 10 April 2014, Pages 157-161
نویسندگان
Aleksander Jamsheer, Anna SowiÅska-Seidler, Magdalena Socha, Agnieszka Stembalska, Cathy Kiraly-Borri, Anna Latos-BieleÅska,