Journal of Clinical Case Reports

Mohammad Khalid Alwasiyah

Publications

• Research Article
  Characterization of Clinical and Neurocognitive Features in a Family with a Novel OGT Gene Missense Mutation [c. 1193G>A/ (p. Ala319Thr)]
  Author(s): Habib Bouazzi, Soufiane Bouaziz, Mohammad Khalid Alwasiyah, Carlos Trujillo and Arnold MunnichHabib Bouazzi, Soufiane Bouaziz, Mohammad Khalid Alwasiyah, Carlos Trujillo and Arnold Munnich
  
  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 me.. Read More»
  DOI: 10.4172/2165-7920.1000656

  Abstract PDF