Abstract: Congenital disorders of glycosylation (CDGs) represent a diverse group of rare genetic diseases characterized by impaired glycan synthesis and attachment to proteins and lipids. CDG Type ۲, specifically caused by mutations in the SLC۳۵C۱ gene, is a relatively newly recognized subtype within this spectrum. This abstract provides an overview of the current understanding of CDG Type ۲, highlighting the diagnostic significance of Whole Exome Sequencing (WES) techniques in identifying SLC۳۵C۱ mutations.Case Presentation: we describe a ۱۲-year-old Female, presented with a complex array of

Alexander disease, a rare and often underdiagnosed leukodystrophy, is a neurological disorder primarily affects the central nervous system’s white matter and characterized by progressive degeneration of the central nervous system (CNS) and a heterogeneous genetic basis. Alexander disease is a complex disorder, and its symptoms can overlap with other neurological conditions and making diagnosis challenging to affects individuals and their families. The symptoms of Alexander disease can vary depending on the age of onset and severity of condition. There are three main form, infantile form, juvenile form, and sometimes adults form. Case Presentation: we describe the journey of a ۵-year-old male who was born in a healthy and consanguineous family, and he was referred to the Children's Department of Shahid Sadoughi Hospital in Yazd, Iran. he had been diagnosed with leukodystrophy, confirmed by MRI findings. Neuroimaging findings revealed characteristic white matter abnormalities. The disease onset occurred when she was two years old and was initially characterized by seizures and gradually his condition worsened, and he displayed progressive behavioral changes, loss of motor skill, and problems with speech and his swallow.Methods: In the present study, we ascertained the identity of a patient through clinical studies, including MRI findings and genetics tests. Whole-exome sequencing (WES) was then conducted to investigate various variants associated with leukodystrophy and determine the specific type present in the patient. Subsequently, Sanger sequencing was performed to confirm the causative mutation in twelve members of the patient's family who were diagnosed with autosomal recessive neurodevelopmental disorders. In silico studies, protein structural modeling and docking analyses were conducted using I-TASSER, HOPE, and Phyre-۲ tools.

کلیدواژه ها:

Alexander ، Leukodystrophy ، Neurodegenerative ، NGS ، Case report