alexa Characterization of Clinical and Neurocognitive Feature
ISSN: 2165-7920

Journal of Clinical Case Reports
Open Access

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Research Article

Characterization of Clinical and Neurocognitive Features in a Family with a Novel OGT Gene Missense Mutation [c. 1193G>A/ (p. Ala319Thr)]

Habib Bouazzi*, Soufiane Bouaziz, Mohammad.Khalid Alwasiyah, Carlos Trujillo and Arnold Munnich
University Hospital Necker Children, France
Corresponding Author : Habib Bouazzi
University Hospital Necker Children
Tel: +33 1 44 49 40 00
E-mail: [email protected]
Received October 25, 2015; Accepted December 04, 2015; Published December 11, 2015
Citation: Bouazzi H, Bouaziz S, Alwasiyah MK, Trujillo C, Munnich A (2015) Characterization of Clinical and Neur-Cognitive Features in a Family with a Novel OGT Gene Missense Mutation C. 1193G>A/ (P. Ala319Thr). J Clin Case Rep 5:656. doi:10.4172/2165-7920.1000656
Copyright: © 2015 Bouazzi H, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
Related article at Pubmed, Scholar Google


X-Linked Intellectual Disability (XLID) is an extremely heterogeneous disorder for which many of the causative genes are still unknown. So far, more than one hundred genes of the X chromosome have been found to alter in males manifesting intellectual disability. OGT (O-linked N-acetyl-Glucosamine-Transferase) gene is well known to be involved in endocrine alterations by the resistance of insulin in muscles and adipocytes and therefore the initiation of diabetes. It is reported to be involved also in cancer, brain development, and neurodegenerative diseases. However, its implication in chromosome X-Linked Intellectual Disability (XLID) has not been pinpointed up until now. In this study, we consider a family of three brothers having a non-syndromic intellectual disability and developmental delay while developing a genetic diagnosis. In the present study, clinical investigations, and medical exams were performed according to the French bioethics law. We performed X-exome sequencing in two patients. Sanger sequencing was accomplished to confirm novel mutations. X-chromosome inactivation was executed in the mother. Affected boys had a severe intellectual disability and mild dysmorphic features. The heterozygous mother had mild cognitive impairment. Her X-chromosome inactivation pattern was not skewed. We identified a novel missense mutation (c. 1193G>A) in the OGT gene. This mutation was inherited by the affected males, and it segregated with the abnormal phenotype. It was predicted to be damaging by SIFT (score 0). The mother was heterozygous and the only normal son was not mutated. The pathological phenotype of our patients might be linked to the new missense mutation, however, more similar clinical cases and functional studies are required to conclude the correlation between the genotype and the phenotype.


Share This Page

Additional Info

Loading Please wait..
Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version