GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family

被引：0

作者：

Z. Zargar

M. Maleknia

M. Sabzeghabaiean

J. Mohammadi-Asl

F. Golab

M. Naseroleslami

机构：

[1] Department of Cellular and Molecular Biology,

[2] Faculty of Advanced Science and Technology,undefined

[3] Tehran Medical Sciences,undefined

[4] Islamic Azad University,undefined

[5] Noorgene Genetic and Clinical Laboratory,undefined

[6] Molecular Research Center,undefined

[7] Cellular and Molecular Research Center,undefined

[8] Iran University of Medical Sciences,undefined

[9] Cancer,undefined

[10] Petroleum and Environmental Pollutants Research Center,undefined

[11] Ahvaz Jundishapur University of Medical Sciences,undefined

来源：

Russian Journal of Genetics | 2024年 / 60卷

关键词：

GM2 gangliosidosis; hexosaminidase A; whole-exome sequencing; Tay-Sachs disease; missense variant;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：109 / 120

页数：11

共 50 条

[31] Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
Law, Chun-Yiu
Chang, Sharon Tzu-Lun
Cho, Sun Young
Yau, Eric Kin-Cheong
Ng, Grace Sui-Fun
Fong, Nai-Chung
Lam, Ching-Wan
CLINICA CHIMICA ACTA, 2015, 451 : 292 - 296
[32] Whole-exome sequencing revealed a novel homozygous missense variant in OSGEP gene: a case report of Galloway-Mowat syndrome in Iran
Esmaeilzadeh, Emran
Moradi, Arman
Khorshid, Hamid Reza Khorram
CEN CASE REPORTS, 2023, 12 (04) : 374 - 377
[33] Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation
Malakootian, Mahshid
Jalilian, Masoumeh
Kalayinia, Samira
Moghadam, Maryam Hosseini
Heidarali, Mona
Haghjoo, Majid
BMC CARDIOVASCULAR DISORDERS, 2022, 22 (01)
[34] Whole-exome sequencing reveals a rare missense variant in DTNA in an Iranian pedigree with early-onset atrial fibrillation
Mahshid Malakootian
Masoumeh Jalilian
Samira Kalayinia
Maryam Hosseini Moghadam
Mona Heidarali
Majid Haghjoo
BMC Cardiovascular Disorders, 22
[35] Whole exome sequencing reveals pathogenic variants in KL and PUDP genes as the cause of intellectual disability in an Iranian family
Gholipour, Fatemeh
Yoshiura, Koh-Ichiro
Hosseinpourfeizi, Mohammadali
Elmi, Naser
Teimourian, Shahram
Safaralizadeh, Reza
GENE REPORTS, 2021, 24
[36] Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems
Valilou, Saeed Farajzadeh
Alavi, Afagh
Pashaei, Mahdiyeh
Firouzabadi, Saghar Ghasemi
Shafeghati, Yousef
Nozari, Ahoura
Hadipour, Fatemeh
Hadipour, Zahra
Estrabadi, Bijan Maghsoodlou
Noorazar, Seyed Gholamreza
Banihashemi, Susan
Karimian, Javad
Fattahi, Mahshid
Behjati, Farkhondeh
MOLECULAR SYNDROMOLOGY, 2020, 11 (02) : 62 - 72
[37] Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS
Pal, Margit
Vetro, Eva
Nagy, Nikoletta
Nagy, Dora
Horvath, Emese
Bokor, Barbara Anna
Varga, Anita
Seres, Laszlo
Olah, Judit
Piffko, Jozsef
Szell, Marta
CURRENT ISSUES IN MOLECULAR BIOLOGY, 2023, 45 (07) : 5293 - 5304
[38] Whole-exome sequencing identifies a novel homozygous missense variant in REEP6 gene in a retinitis pigmentosa patient complicated with macular hole
Lei, Bo
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2019, 60 (09)
[39] Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis
Venugopalan, S. Rengasamy
Farrow, E. G.
Lypka, M.
ORTHODONTICS & CRANIOFACIAL RESEARCH, 2017, 20 : 50 - 56
[40] Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
Shen, Na
Wang, Ting
Li, Delei
Liu, Aiguo
Lu, Yanjun
BMC MEDICAL GENETICS, 2019, 20

← 1 2 3 4 5 →