A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations

A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations Publisher Pubmed

Taghavi S¹ ; Chaouni R² ; Tafakhori A³ ; Azcona LJ^{2, 4} ; Firouzabadi SG⁵ ; Omrani MD¹ ; Jamshidi J⁶ ; Emamalizadeh B⁷ ; Shahidi GA⁸ ; Ahmadi M³ ; Habibi SAH⁸ ; Ahmadifard A¹ ; Fazeli A¹ ; Motallebi M¹ Show All Authors

Taghavi S¹
Chaouni R²
Tafakhori A³
Azcona LJ^{2, 4}
Firouzabadi SG⁵
Omrani MD¹
Jamshidi J⁶
Emamalizadeh B⁷
Shahidi GA⁸
Ahmadi M³
Habibi SAH⁸
Ahmadifard A¹
Fazeli A¹
Motallebi M¹
Petramfar P⁹
Askarpour S¹
Askarpour S¹
Shahmohammadibeni HA¹⁰
Shahmohammadibeni N¹¹
Eftekhari H¹¹
Shafiei Zarneh AE¹
Mohammadihosseinabad S¹
Khorrami M¹
Najmi S¹²
Chitsaz A¹³
Shokraeian P¹⁴
Ehsanbakhsh H¹
Rezaeidian J¹
Ebrahimi Rad R¹⁵
Madadi F¹
Andarva M¹
Alehabib E¹
Atakhorrami M¹
Mortazavi SE¹
Azimzadeh Z¹
Bayat M¹
Besharati AM¹
Haratighavi MA¹
Omidvari S¹
Dehghanitafti Z¹
Mohammadi F¹
Mohammad Hossein Pour B¹
Noorollahi Moghaddam H¹⁶
Esmaili Shandiz E¹⁷
Habibi A⁸
Taherianesfahani Z¹
Darvish H¹
Paisanruiz C^{2, 18, 19}

Show Affiliations

1. Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2. Department of Neurology, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
3. Department of Neurology, School of Medicine, Imam Khomeini Hospital and Iranian Center of Neurological Research, Tehran University of Medical Sciences, Tehran, Iran
4. Department of Neurosciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
5. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
6. Noncommunicable Diseases Research Center, Fasa University of Medical Sciences, Fasa, Iran
7. Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran
8. Movement Disorders Clinic, Hazrat Rassol Hospital, Iran University of Medical Sciences, Tehran, Iran
9. Department of Neurology, Shiraz University of Medical Sciences, Shiraz, Iran
10. Neurology Department, Jondi-Shapoor University of Medical Sciences, Ahwaz, Iran
11. Cellular and Molecular Biology Research Center, Babol University of Medical Sciences, Babol, Iran
12. Department of Neurology, Tabriz University of Medical Science, Tabriz, Iran
13. Isfahan University of Medical Sciences, Isfahan, Iran
14. Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
15. Vali Abad Branch, Islamic Azad University, Tonekabon, Iran
16. Toos General Hospital, Tehran, Iran
17. Neurology Department, Ganjavian Hospital, Dezful University of Medical Sciences, Dezful, Iran
18. Departments of Psychiatry, Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States
19. Friedman Brain and Mindich Child Health and Development Institutes, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, 10029, NY, United States

Source: Molecular Neurobiology Published:2018

Abstract

In this study, the role of known Parkinson’s disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families. © 2017, Springer Science+Business Media New York.

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Style	Citing Format
MLA	Taghavi S, et al.. "A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations." Molecular Neurobiology, vol. 55, no. 4, 2018, pp. 3477-3489.
APA	Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, Emamalizadeh B, Shahidi GA, Ahmadi M, Habibi SAH, Ahmadifard A, Fazeli A, Motallebi M, Petramfar P, Askarpour S, Askarpour S, Shahmohammadibeni HA, Shahmohammadibeni N, ... Paisanruiz C (2018). A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular Neurobiology, 55(4), 3477-3489.
Chicago	Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, Jamshidi J, et al.. "A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations." Molecular Neurobiology 55, no. 4 (2018): 3477-3489.
Harvard	Taghavi S et al. (2018) 'A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations', Molecular Neurobiology, 55(4), pp. 3477-3489.
Vancouver	Taghavi S, Chaouni R, Tafakhori A, Azcona LJ, Firouzabadi SG, Omrani MD, et al.. A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations. Molecular Neurobiology. 2018;55(4):3477-3489.
BibTex	@article{ author = {Taghavi S and Chaouni R and Tafakhori A and Azcona LJ and Firouzabadi SG and Omrani MD and Jamshidi J and Emamalizadeh B and Shahidi GA and Ahmadi M and Habibi SAH and Ahmadifard A and Fazeli A and Motallebi M and Petramfar P and Askarpour S and Askarpour S and Shahmohammadibeni HA and Shahmohammadibeni N and Eftekhari H and Shafiei Zarneh AE and Mohammadihosseinabad S and Khorrami M and Najmi S and Chitsaz A and Shokraeian P and Ehsanbakhsh H and Rezaeidian J and Ebrahimi Rad R and Madadi F and Andarva M and Alehabib E and Atakhorrami M and Mortazavi SE and Azimzadeh Z and Bayat M and Besharati AM and Haratighavi MA and Omidvari S and Dehghanitafti Z and Mohammadi F and Mohammad Hossein Pour B and Noorollahi Moghaddam H and Esmaili Shandiz E and Habibi A and Taherianesfahani Z and Darvish H and Paisanruiz C}, title = {A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations}, journal = {Molecular Neurobiology}, volume = {55}, number = {4}, pages = {3477-3489}, year = {2018} }
RIS	TY - JOUR AU - Taghavi S AU - Chaouni R AU - Tafakhori A AU - Azcona LJ AU - Firouzabadi SG AU - Omrani MD AU - Jamshidi J AU - Emamalizadeh B AU - Shahidi GA AU - Ahmadi M AU - Habibi SAH AU - Ahmadifard A AU - Fazeli A AU - Motallebi M AU - Petramfar P AU - Askarpour S AU - Askarpour S AU - Shahmohammadibeni HA AU - Shahmohammadibeni N AU - Eftekhari H AU - Shafiei Zarneh AE AU - Mohammadihosseinabad S AU - Khorrami M AU - Najmi S AU - Chitsaz A AU - Shokraeian P AU - Ehsanbakhsh H AU - Rezaeidian J AU - Ebrahimi Rad R AU - Madadi F AU - Andarva M AU - Alehabib E AU - Atakhorrami M AU - Mortazavi SE AU - Azimzadeh Z AU - Bayat M AU - Besharati AM AU - Haratighavi MA AU - Omidvari S AU - Dehghanitafti Z AU - Mohammadi F AU - Mohammad Hossein Pour B AU - Noorollahi Moghaddam H AU - Esmaili Shandiz E AU - Habibi A AU - Taherianesfahani Z AU - Darvish H AU - Paisanruiz C TI - A Clinical and Molecular Genetic Study of 50 Families With Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations JO - Molecular Neurobiology VL - 55 IS - 4 SP - 3477 EP - 3489 PY - 2018 ER -

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