مقالات پذیرفته شده در هشتمین کنگره بین المللی زیست پزشکی
USH2A Mutation Identified in a Patient with Early-Onset Usher Syndrome in Lorestan
USH2A Mutation Identified in a Patient with Early-Onset Usher Syndrome in Lorestan
Hamed Esmaeil Lashgarian ,1Hamidreza Khodadadi ,2,*Masumeh Jalalvand ,3Maryam Zand ,4Amirmasoud Jalalvand ,5leila Abkhooie ,6
1. Associate Professor, Department of Medical Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran 2. Assistant Professor, Hepatitis Research Center, Department of Medical Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran 3. Assistant Professor, Department of Medical Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran 4. Department of Biotechnology and Molecular Medicine, Faculty of Medicine, Arak University of Medical Sciences, Arak, Iran. 5. Department of Medical Biotechnology, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran 6. Assistant Professor, Department of Medical Biotechnology, Faculty of Medicine, Lorestan University of Medical Sciences, Khorramabad, Iran
Introduction: Usher syndrome is a complex genetic disorder that leads to a combination of visual and auditory impairments. The syndrome is characterized by a wide range of clinical presentations and is genetically diverse, with no current definitive treatment available. This report aims to describe a identified homozygous USH2A mutation in a Lorestani patient who experienced hearing impairments, low set ears, small ears, contributing to the understanding and diagnosis of Usher syndrome.
Methods: The boy, who is 6-year-old, presented with a developmental delay, and the spasms, intellectual disability, low set ears, small ears. Genomic DNA was extracted from the blood sample. Whole Genome Sequencing was performed, and Sanger sequencing verified the results.
Results: A comprehensive clinical and molecular genetic evaluation was conducted, which was consistent with a diagnosis of Usher syndrome. Patient Genetic testing identify one pathogenic homozygous mutation in exon 10 of USH2A (c.C1663G ; p.L555V), with the proband's parents being hetrozygous for this mutation.
Conclusion: The identification of this USH2A mutation not only broadens the spectrum of genetic alterations known to cause Usher syndrome but also enhances the diagnostic tools available for clinicians. It provides valuable insights into the genetic basis of the disease, aiding in the assessment of patient prognosis and the importance of genetic testing in identifying mutations in patients with undiagnosed progressive hearing impairments.