Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy

被引：0

作者：

M. M. Zwartkruis ^{[1
]}

M. G. Elferink ^{[2
]}

D. Gommers ^{[2
]}

I. Signoria ^{[1
]}

L. Blasco-Pérez ^{[2
]}

M. Costa-Roger ^{[1
]}

J. van der Sel ^{[3
]}

I. J. Renkens ^{[4
]}

J. W. Green ^{[3
]}

J. V. Kortooms ^{[4
]}

C. Vermeulen ^{[1
]}

R. Straver ^{[2
]}

H. W. M. van Deutekom ^{[2
]}

J. H. Veldink ^{[5
]}

F. Asselman ^{[6
]}

E. F. Tizzano ^{[1
]}

R. I. Wadman ^{[1
]}

W. L. van der Pol ^{[5
]}

G. W. van Haaften ^{[7
]}

E. J. N. Groen ^{[5
]}

机构：

[1] UMC Utrecht Brain Center,Department of Neurology and Neurosurgery

[2] University Medical Center Utrecht,Department of Genetics

[3] University Medical Center Utrecht,Medicine Genetics Group

[4] Vall d’Hebron Research Institute (VHIR),Department of Clinical and Molecular Genetics

[5] Hospital Vall d’Hebron,Center for Molecular Medicine

[6] University Medical Center Utrecht,Utrecht Sequencing Facility, Center for Molecular Medicine

[7] University Medical Center Utrecht,undefined

[8] Oncode Institute,undefined

来源：

Genome Medicine | / 17卷 / 1期

关键词：

Spinal muscular atrophy; Long-read sequencing; Gene conversion; Dark genomic regions; Segmental duplications;

D O I：

10.1186/s13073-025-01448-2

中图分类号：

学科分类号：

摘要：

引用

共 50 条

[1] Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing
Wang, Ningning
Jiao, Kexin
He, Jin
Zhu, Bochen
Cheng, Nachuan
Sun, Jian
Chen, Lan
Chen, Wanjin
Gong, Lingyun
Qiao, Kai
Xi, Jianying
Wu, Qihan
Zhao, Chongbo
Zhu, Wenhua
JOURNAL OF MOLECULAR DIAGNOSTICS, 2024, 26 (05): : 364 - 373
[2] Long-read amplicon sequencing detects a bi-allelic SMN1>SMN2 gene conversion allele that does not guarantee a spinal muscular atrophy (SMA) phenotype
Muallem, H.
Harting, J.
Heiner, C.
Scher, S. Y.
Ekstein, J.
Zeevi, D. A.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 448 - 448
[3] Comprehensive SMN1 and SMN2 Profiling for Spinal Muscular Atrophy Analysis Using Long-Read PacBio HiFi Sequencing
Chen, X.
Harting, J.
Eberle, M.
JOURNAL OF MOLECULAR DIAGNOSTICS, 2022, 24 (10): : S80 - S81
[4] Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
Chen, Xiao
Harting, John
Farrow, Emily
Thiffault, Isabelle
Kasperaviciute, Dalia
Hoischen, Alexander
Gilissen, Christian
Pastinen, Tomi
Eberle, Michael A.
AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 110 (02) : 240 - 250
[5] Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy
Long, Ju
Cui, Di
Yu, Chunhui
Meng, Wanli
HUMAN GENOMICS, 2024, 18 (01)
[6] Utilizing long-read amplicon sequencing for comprehensive pan-ethnic spinal muscular atrophy (SMA) carrier screening
Zeevi, D. A.
Harting, J.
Bringer, R.
McLaughlin, I.
Scher, S.
Ekstein, J.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 1620 - 1620
[7] SMN gene copy number analysis of malaysian spinal muscular atrophy (SMA) patients.
Bin Alwi, Z
Watihayati, MS
Sasongko, TH
Sadewa, AH
Tang, TH
Nishio, H
Zabidi-Husin, AMH
JOURNAL OF MEDICAL GENETICS, 2005, 42 : S50 - S50
[8] Relatedness of SMN gene deletion and conversion with clinical presentation in spinal muscular atrophy.
Haider, MZ
Moosa, A
Habib, Y
Reynold, L
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 386 - 386
[9] The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy
Tran, TD
Kroepfl, T
Saito, M
Nagura, M
Ichiseki, H
Kubota, M
Toda, T
Sakakihara, Y
BRAIN & DEVELOPMENT, 2001, 23 (05): : 321 - 326
[10] Gene conversion between SMN1 and SMN2 in normals, carriers and spinal muscular atrophy patients
Chen, T. H.
Wang, C. C.
Wu, S. M.
Chang, J. G.
Hsu, S. H.
Jong, Y. J.
NEUROMUSCULAR DISORDERS, 2010, 20 (9-10) : 652 - 652

← 1 2 3 4 5 →