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面肩肱型肌营养不良症——复杂的多基因疾病中的生殖咨询、妊娠和分娩。

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.

机构信息

Department of Neurology, Neuromuscular Centre Nijmegen, Radboud University Medical Center, Nijmegen, The Netherlands.

Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

出版信息

Clin Genet. 2022 Feb;101(2):149-160. doi: 10.1111/cge.14031. Epub 2021 Aug 1.

DOI:10.1111/cge.14031
PMID:34297364
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9291192/
Abstract

Reproductive counseling in facioscapulohumeral muscular dystrophy (FSHD) can be challenging due to the complexity of its underlying genetic mechanisms and due to incomplete penetrance of the disease. Full understanding of the genetic causes and potential inheritance patterns of both distinct FSHD types is essential: FSHD1 is an autosomal dominantly inherited repeat disorder, whereas FSHD2 is a digenic disorder. This has become even more relevant now that prenatal diagnosis and preimplantation genetic diagnosis options are available for FSHD1. Pregnancy and delivery outcomes in FSHD are usually favorable, but clinicians should be aware of the risks. We aim to provide clinicians with case-based strategies for reproductive counseling in FSHD, as well as recommendations for pregnancy and delivery.

摘要

由于面肩肱型肌营养不良症 (FSHD) 潜在遗传机制的复杂性和疾病不完全外显，其生殖咨询颇具挑战性。充分了解两种不同 FSHD 类型的遗传原因和潜在遗传模式至关重要：FSHD1 是一种常染色体显性遗传重复疾病，而 FSHD2 是一种双基因疾病。鉴于现在已经有 FSHD1 的产前诊断和胚胎植入前遗传学诊断选择，这一点变得更加重要。FSHD 的妊娠和分娩结局通常较好，但临床医生应了解相关风险。我们旨在为临床医生提供基于病例的 FSHD 生殖咨询策略，以及妊娠和分娩建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/44c912e012cb/CGE-101-149-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/a0752358557f/CGE-101-149-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/14dad274e0c5/CGE-101-149-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/8267d7754bc3/CGE-101-149-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/44c912e012cb/CGE-101-149-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/a0752358557f/CGE-101-149-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/14dad274e0c5/CGE-101-149-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/8267d7754bc3/CGE-101-149-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8f71/9291192/44c912e012cb/CGE-101-149-g005.jpg

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ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders.欧洲人类生殖与胚胎学会（ESHRE）植入前基因检测联盟关于单基因疾病检测的良好实践建议。
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Homozygous nonsense variant in associated with facioscapulohumeral muscular dystrophy.
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Clin Genet. 2024 Jul;106(1):13-26. doi: 10.1111/cge.14533. Epub 2024 Apr 29.
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