 |
Case Report
Advent of the molecular genetic testing taking a crucial role in diagnosing clinically indistinguishable rare genetic disease
1 Resident Physician, Department of Pediatrics, Metropolitan Hospital, 1901,1st Avenue, New York, NY 10029, USA
2 Director of Genetics, Department of Pediatrics, Metropolitan Hospital, 1901, 1st Avenue, New York, NY 10029, USA
3 Program Director, Department of Pediatrics, Metropolitan Hospital, 1901, 1st Avenue, New York, NY 10029, USA
Address correspondence to:
Swagata Mitra
MD, Resident Physician, Department of Pediatrics, Metropolitan Hospital, 1901, 1st Avenue, New York, NY 10029,
USA
Message to Corresponding Author
Article ID: 100013Z19SM2022
Access full text article on other devices
Access PDF of article on other devices
How to cite this article
Mitra S, Banikazemi M, Chopra M. Advent of the molecular genetic testing taking a crucial role in diagnosing clinically indistinguishable rare genetic disease. J Case Rep Images Pediatr 2022;4:100013Z19SM2022.ABSTRACT
Introduction: Genetic diseases present with overlapping clinical symptomatology very often. It can misdirect the course of the diagnosis toward a misdiagnosis, if an effective diagnostic test is not available. In this modern era of molecular genetics, the whole exome sequencing (WES) test is contributing significantly to diagnose some rare genetic diseases.
Case Report: In this case report we are going to depict a clinical scenario of a patient who was initially diagnosed with Kabuki syndrome, but later was found to have congenital disorder of glycosylation (CDG) after WES was done. Even though the clinical presentation was suggestive of both these genetic diseases, WES testing was completely able to provide us with the confirmed diagnosis of CDG.
Conclusion: Undoubtedly the contribution of WES testing in the progress of precision medicine is very remarkable. Its utilization should be maximized while suspecting any rare genetic disease.
Keywords: Congenital disorder of glycosylation, Precision medicine, Whole exome sequencing
SUPPORTING INFORMATION
Author Contributions
Swagata Mitra - Conception of the work, Design of the work, Drafting the work, Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Maryam Banikazemi - Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Manju Chopra - Revising the work critically for important intellectual content, Final approval of the version to be published, Agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2022 Swagata Mitra et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
