کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5641375 1406857 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی دندانپزشکی، جراحی دهان و پزشکی
پیش نمایش صفحه اول مقاله
Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report
چکیده انگلیسی

Human genetic disease needs differential diagnosis to optimize clinical management, enable prenatal detection, and genetic counselling. The current methods of robust DNA sequencing also require next generation phenotyping to match with for better interpretation of genotypic and phenotypic heterogeneity commonly observed. We report use of human ontology based phenotypic characterization with Phenomizer that gives statistical score for possible diagnoses based on which, the gene mutation was studied.A case of craniosynostosis which refers to a group of syndromes characterized by a premature fusion of skull was studied. The phenotypic features viz, dental crowding and dental malocclusion, bulbous nose, downslanted palpebral fissures, radial deviation of thumb, syndactyly of fingers, macrocephaly, and oxycephaly were entered to query the web-based tool Phenomizer which indicated high probability of mutation in FGFR2 gene. The proband, a 13-year-old male born to non-consanguineous parents showed mutation on FGFR2 gene at c.755C>G indicative of Apert syndrome. Apert syndrome is one of the most severe craniosynostosis syndromes with two possible mutations in the exon IIIa of FGFR2 gene reported in majority of the cases. This case study shows the importance of Phenomizer and molecular genetic analysis in differential diagnosis of genetic diseases.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Oral Biology and Craniofacial Research - Volume 7, Issue 1, January–April 2017, Pages 67-71
نویسندگان
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