Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)

Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression) Publisher Pubmed

Ghaffari SR^{1, 2, 3} ; Rafati M^{1, 2} ; Shadnoush M⁴ ; Pourbabaee S⁵ ; Aghighi M⁶ ; Mirab Samiee S^{7, 8} ; Kermanchi J⁶ ; Alaei MR⁹ ; Salehpour S⁹ ; Amirkashani D¹⁰ ; Setoodeh A¹¹ ; Sarkhail P¹² ; Badv RS¹³ ; Aminzadeh M¹⁴ Show All Authors

Ghaffari SR^{1, 2, 3}
Rafati M^{1, 2}
Shadnoush M⁴
Pourbabaee S⁵
Aghighi M⁶
Mirab Samiee S^{7, 8}
Kermanchi J⁶
Alaei MR⁹
Salehpour S⁹
Amirkashani D¹⁰
Setoodeh A¹¹
Sarkhail P¹²
Badv RS¹³
Aminzadeh M¹⁴
Shiva S¹⁵
Eshraghi P¹⁶
Moravej H¹⁷
Hashemipour M¹⁸
Rostampour N¹⁹
Hamidieh A²⁰
Shamsian BS²¹
Shams S²²
Zamanfar D²³
Ebrahimi A¹⁵
Otadi A²⁴
Tara SZ²⁵
Barati Z^{1, 2}
Fakhri L^{1, 2}
Hoseini A²
Amiri H²
Ramandi S²
Mostofinezhad N²
Kani ZP²⁶
Mohammadyari E²⁶
Khosravi M²⁶
Saadati M²⁷
Hoseininasab F²
Khorram Khorshid HR¹
Modaberisaber Y¹

Source: Human Mutation Published:2022

Abstract

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicity and geographical origins. 185/289 patients were studied using an IEM-targeted NGS panel followed by complementary Sanger sequencing, which led to the diagnosis of 154 MPS patients and 5 non-MPS IEMs (diagnostic yield: 85.9%). Furthermore, 106/289 patients who were referred with positive findings went through reanalysis and confirmatory tests which confirmed MPS diagnosis in 104. Among the total of 258 MPS patients, 225 were homozygous, 90 harbored novel variants, and 9 had copy number variations. MPS IV was the most common type (34.8%) followed by MPS I (22.7%) and MPS VI (22.5%). Geographical origin analysis unveiled a pattern of distribution for frequent variants in ARSB (c.430G>A, c.962T>C [p.Leu321Pro], c.281C>A [p.Ser94*]), GALNS (c.319G>A [p.Ala107Thr], c.860C>T [p.Ser287Leu], c.1042A>G [p.Thr348Ala]), and IDUA (c.1A>C [p.Met1Leu], c.1598C>G [p.Pro533Arg], c.1562_1563insC [p.Gly522Argfs*50]). Our extensive patient cohort reveals the genetic and geographic landscape of MPS in Iran, which provides insight into genetic epidemiology of MPS and can facilitate a more cost-effective, time-efficient diagnostic approach based on the region-specific variants. © 2022 Wiley Periodicals LLC.

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Style	Citing Format
MLA	Ghaffari SR, et al.. "Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)." Human Mutation, vol. 43, no. 4, 2022, pp. e1-e23.
APA	Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, Alaei MR, Salehpour S, Amirkashani D, Setoodeh A, Sarkhail P, Badv RS, Aminzadeh M, Shiva S, Eshraghi P, Moravej H, Hashemipour M, Rostampour N, ... Modaberisaber Y (2022). Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression). Human Mutation, 43(4), e1-e23.
Chicago	Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, et al.. "Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)." Human Mutation 43, no. 4 (2022): e1-e23.
Harvard	Ghaffari SR et al. (2022) 'Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)', Human Mutation, 43(4), pp. e1-e23.
Vancouver	Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, et al.. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression). Human Mutation. 2022;43(4):e1-e23.
BibTex	@article{ author = {Ghaffari SR and Rafati M and Shadnoush M and Pourbabaee S and Aghighi M and Mirab Samiee S and Kermanchi J and Alaei MR and Salehpour S and Amirkashani D and Setoodeh A and Sarkhail P and Badv RS and Aminzadeh M and Shiva S and Eshraghi P and Moravej H and Hashemipour M and Rostampour N and Hamidieh A and Shamsian BS and Shams S and Zamanfar D and Ebrahimi A and Otadi A and Tara SZ and Barati Z and Fakhri L and Hoseini A and Amiri H and Ramandi S and Mostofinezhad N and Kani ZP and Mohammadyari E and Khosravi M and Saadati M and Hoseininasab F and Khorram Khorshid HR and Modaberisaber Y}, title = {Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)}, journal = {Human Mutation}, volume = {43}, number = {4}, pages = {e1-e23}, year = {2022} }
RIS	TY - JOUR AU - Ghaffari SR AU - Rafati M AU - Shadnoush M AU - Pourbabaee S AU - Aghighi M AU - Mirab Samiee S AU - Kermanchi J AU - Alaei MR AU - Salehpour S AU - Amirkashani D AU - Setoodeh A AU - Sarkhail P AU - Badv RS AU - Aminzadeh M AU - Shiva S AU - Eshraghi P AU - Moravej H AU - Hashemipour M AU - Rostampour N AU - Hamidieh A AU - Shamsian BS AU - Shams S AU - Zamanfar D AU - Ebrahimi A AU - Otadi A AU - Tara SZ AU - Barati Z AU - Fakhri L AU - Hoseini A AU - Amiri H AU - Ramandi S AU - Mostofinezhad N AU - Kani ZP AU - Mohammadyari E AU - Khosravi M AU - Saadati M AU - Hoseininasab F AU - Khorram Khorshid HR AU - Modaberisaber Y TI - Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression) JO - Human Mutation VL - 43 IS - 4 SP - e1 EP - e23 PY - 2022 ER -

Style

Citing Format

MLA

Ghaffari SR, et al.. "Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)." Human Mutation, vol. 43, no. 4, 2022, pp. e1-e23.

APA

Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, Alaei MR, Salehpour S, Amirkashani D, Setoodeh A, Sarkhail P, Badv RS, Aminzadeh M, Shiva S, Eshraghi P, Moravej H, Hashemipour M, Rostampour N, ... Modaberisaber Y (2022). Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression). Human Mutation, 43(4), e1-e23.

Chicago

Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, Kermanchi J, et al.. "Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)." Human Mutation 43, no. 4 (2022): e1-e23.

Harvard

Ghaffari SR et al. (2022) 'Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)', Human Mutation, 43(4), pp. e1-e23.

Vancouver

Ghaffari SR, Rafati M, Shadnoush M, Pourbabaee S, Aghighi M, Mirab Samiee S, et al.. Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression). Human Mutation. 2022;43(4):e1-e23.

BibTex

@article{ author = {Ghaffari SR and Rafati M and Shadnoush M and Pourbabaee S and Aghighi M and Mirab Samiee S and Kermanchi J and Alaei MR and Salehpour S and Amirkashani D and Setoodeh A and Sarkhail P and Badv RS and Aminzadeh M and Shiva S and Eshraghi P and Moravej H and Hashemipour M and Rostampour N and Hamidieh A and Shamsian BS and Shams S and Zamanfar D and Ebrahimi A and Otadi A and Tara SZ and Barati Z and Fakhri L and Hoseini A and Amiri H and Ramandi S and Mostofinezhad N and Kani ZP and Mohammadyari E and Khosravi M and Saadati M and Hoseininasab F and Khorram Khorshid HR and Modaberisaber Y}, title = {Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)}, journal = {Human Mutation}, volume = {43}, number = {4}, pages = {e1-e23}, year = {2022} }

RIS

TY - JOUR
AU - Ghaffari SR
AU - Rafati M
AU - Shadnoush M
AU - Pourbabaee S
AU - Aghighi M
AU - Mirab Samiee S
AU - Kermanchi J
AU - Alaei MR
AU - Salehpour S
AU - Amirkashani D
AU - Setoodeh A
AU - Sarkhail P
AU - Badv RS
AU - Aminzadeh M
AU - Shiva S
AU - Eshraghi P
AU - Moravej H
AU - Hashemipour M
AU - Rostampour N
AU - Hamidieh A
AU - Shamsian BS
AU - Shams S
AU - Zamanfar D
AU - Ebrahimi A
AU - Otadi A
AU - Tara SZ
AU - Barati Z
AU - Fakhri L
AU - Hoseini A
AU - Amiri H
AU - Ramandi S
AU - Mostofinezhad N
AU - Kani ZP
AU - Mohammadyari E
AU - Khosravi M
AU - Saadati M
AU - Hoseininasab F
AU - Khorram Khorshid HR
AU - Modaberisaber Y
TI - Molecular Characterization of a Large Cohort of Mucopolysaccharidosis Patients: Iran Mucopolysaccharidosis Re-Diagnosis Study (Impression)
JO - Human Mutation
VL - 43
IS - 4
SP - e1
EP - e23
PY - 2022
ER -

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