A novel missense mutation (c.۲۱۵G>A) in two Iranian siblings with combined oxidative phosphorylation defect type ۷: A case report
محل انتشار: کنفرانس بین المللی ژنتیک و ژنومیکس انسانی
سال انتشار: 1400
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 141
نسخه کامل این مقاله ارائه نشده است و در دسترس نمی باشد
- صدور گواهی نمایه سازی
- من نویسنده این مقاله هستم
استخراج به نرم افزارهای پژوهشی:
شناسه ملی سند علمی:
CHGGE01_377
تاریخ نمایه سازی: 13 مهر 1401
چکیده مقاله:
Backgrounds: Combined oxidative phosphorylation defect type ۷ (COXPD۷) is a raremitochondrial disease resulting from the malfunction of the translational termination factorc۱۲orf۶۵ (MTRF-R), which leads to the disrupted mitochondrial protein synthesis. COXPD۷ ischaracterized by several phenotypes, include early onset of failure to thrive and psychomotorregression, as well as vision issues and global muscle atrophy. The prevalence is < ۱ in۱,۰۰۰,۰۰۰. So far, ten mutations have been reported in the literature to cause the disease.Materials and Methods: The proband demonstrated intellectual disability, globaldevelopmental delay, visual impairment, strabismus and scoliosis. Whole exome sequencing andfurther Sanger sequencing were carried out to confirm the mutations in the proband andadditional family members. Assessing the variant against databases such as VarSome andHGMD shed light on this novel variant.Results: The WES data identified the variant in the proband as likely pathogenic. The resultswere consistent with that of the exome sequencing, confirming the segregation of c.۲۱۵G>Awith the phenotypes.Conclusion: Here we report c.۲۱۵G>A as a novel homozygous variant in C۱۲orf۶۵. It is the firstmissense mutation to cause c۱۲orf۶۵-related diseases, suggesting a loss of function mechanismmight have led the multi-systemic phenotypes.
کلیدواژه ها:
نویسندگان
Mahshid Pooladvand
Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Asrin Irani
Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Nader Ebadi
Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran
Majid Hosseinzadeh
Department of Biochemistry, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran