Apert syndrome with S252W FGFR2 mutation and characterization using Phenomizer: An Indian case report.

ABSTRACT: 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, macrocep

SUBMITTER: Kunwar F 

PROVIDER: S-EPMC5343159 | biostudies-literature | 2017 Jan-Apr

REPOSITORIES: biostudies-literature