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Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.

作者信息

Dominguez Gonzalez Carlos A, Spinner Nancy B, Ahrens-Nicklas Rebecca C, Young Lisa R, Voss Laura A, Reichert Sara L, Gallo Daniel J, Cohen Julie S, Bonkowsky Joshua L, Keller Stephanie R, Bennett Mariko L, Pizzino Amy M, Swantkowski Meghan, Arnold Kaley, Fraser Jamie L, Emerson Felicity J, Miettunen Kelly, Fatemi Ali, Van Haren Keith P, Adang Laura, Waldman Amy, Emrick Lisa, Eichler Florian, Vanderver Adeline

机构信息

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA.

Division of Genomic Diagnostics, Children's Hospital of Philadelphia, PA; Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

出版信息

Genet Med. 2025 Jul;27(7):101425. doi: 10.1016/j.gim.2025.101425. Epub 2025 Apr 5.

DOI:10.1016/j.gim.2025.101425
PMID:40202052
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12308962/
Abstract
摘要

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本文引用的文献

1
Lipidomic biomarkers in plasma correlate with disease severity in adrenoleukodystrophy.血浆中的脂质组学生物标志物与肾上腺脑白质营养不良的疾病严重程度相关。
Commun Med (Lond). 2024 Sep 10;4(1):175. doi: 10.1038/s43856-024-00605-9.
2
ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).ACMG SF v3.2 临床外显子组和基因组测序中报告次要发现的列表：美国医学遗传学与基因组学学会 (ACMG) 的政策声明。
Genet Med. 2023 Aug;25(8):100866. doi: 10.1016/j.gim.2023.100866. Epub 2023 Jun 22.
3
Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.意大利X连锁肾上腺脑白质营养不良的新生儿筛查：诊断算法与疾病监测
Front Neurol. 2023 Jan 9;13:1072256. doi: 10.3389/fneur.2022.1072256. eCollection 2022.
4
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.国际肾上腺脑白质营养不良患者诊断与管理建议：基于共识的方法。
Neurology. 2022 Nov 22;99(21):940-951. doi: 10.1212/WNL.0000000000201374. Epub 2022 Sep 29.
5
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan.台湾地区X连锁肾上腺脑白质营养不良新生儿筛查中鉴定出的无义变异高发生率。
Mol Genet Metab Rep. 2022 Jul 28;32:100902. doi: 10.1016/j.ymgmr.2022.100902. eCollection 2022 Sep.
6
Structure and Function of the Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.变体数据库的结构和功能：20 年、940 个致病性变体和 3400 例肾上腺脑白质营养不良。
Cells. 2022 Jan 14;11(2):283. doi: 10.3390/cells11020283.
7
Variables affecting outcomes after allogeneic hematopoietic stem cell transplant for cerebral adrenoleukodystrophy.异基因造血干细胞移植治疗脑肾上腺脑白质营养不良的影响因素。
Blood Adv. 2022 Mar 8;6(5):1512-1524. doi: 10.1182/bloodadvances.2021005294.
8
Utility of measuring very long-chain fatty-acyl carnitines in dried blood spots for newborn screening of X-linked Adrenoleukodystrophy.在干血斑中检测极长链脂肪酰肉碱用于X连锁肾上腺脑白质营养不良新生儿筛查的效用。
Mol Genet Metab Rep. 2021 Jan 30;26:100720. doi: 10.1016/j.ymgmr.2021.100720. eCollection 2021 Mar.
9
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.基于新生儿筛查发现的 X 连锁肾上腺脑白质营养不良男童的 MRI 监测：荟萃分析和共识指南。
J Inherit Metab Dis. 2021 May;44(3):728-739. doi: 10.1002/jimd.12356. Epub 2021 Jan 9.
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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.荷兰肾上腺脑白质营养不良新生儿筛查（SCAN研究）：X因素
Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020.