PuSH - Publication Server of Helmholtz Zentrum München: Whole-exome sequencing study of consanguineous Parkinson's disease families and related phenotypes: Report of Twelve novel variants.

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Soudyab, M.* ; Shariati, M.* ; Esfehani, R.J.* ; Shalaei, N.* ; Vafadar, S.* ; Nouri, V.* ; Zech, M. ; Winkelmann, J. ; Shoeibi, A.* ; Sadr-Nabavi, A.

Whole-exome sequencing study of consanguineous Parkinson's disease families and related phenotypes: Report of Twelve novel variants.

J. Mol. Neurosci. 72, 2486-2496 (2022)

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Parkinson's disease (PD) is a common progressive neurodegenerative disorder with motor and nonmotor symptoms. Recent studies demonstrate various susceptibility loci and candidate genes for familial forms of the disease. However, the genetic basis of the familial form of early-onset PD (EOPD) is not widely studied in the Iranian population. Therefore, the present study aimed to investigate the possible causative genetic variants responsible for developing EOPD among Iranian patients. Iranian patients with a clinical diagnosis of Parkinson's disease were evaluated, and 12 consanguineous families with at least two affected individuals with early-onset PD (EOPD) were chosen to enroll in the present study. An expert neurologist group examined these families. Whole-exome sequencing (WES) was performed on PD patients, and the possible causative genetic variants related to the development of PD were reported. Exome sequencing (WES) was performed on every PD patient and revealed that patients had novel genetic variants in PRKN, PARK7, and PINK1 genes. All the genetic variants were in homozygous status and none of these variants were previously reported in the literature. Moreover, these genetic variants were "pathogenic" based on bioinformatic studies and according to the American College of Medical Genetics (ACMG). The present research revealed some novel variants for EOPD among the Iranian population. Further functional studies are warranted to confirm the pathogenicity of these novel variants and establish their clinical application for the early diagnosis of EOPD.

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