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Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28.
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Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.共济失调-全血细胞减少综合征由SAMD9L基因的错义突变引起。
Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009.
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Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy.因 SAMD9L 突变导致的全血细胞减少伴共济失调综合征表现为脱髓鞘性神经病。
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Ataxia-pancytopenia syndrome.共济失调-全血细胞减少综合征
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A Comprehensive Review of Somatic and Germline Biomarkers Associated with Childhood B-Cell Precursor Acute Lymphoblastic Leukemia: From Biological Significance to Precision Medicine Opportunities.与儿童B细胞前体急性淋巴细胞白血病相关的体细胞和种系生物标志物的综合综述：从生物学意义到精准医学机遇
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Brain Commun. 2022 Feb 10;4(2):fcac030. doi: 10.1093/braincomms/fcac030. eCollection 2022.
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Adult-Onset Ataxia With Neuropathy and White Matter Abnormalities Due to a Novel Variant.由一种新型变异导致的成人起病性共济失调伴神经病和白质异常
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Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes.SAMD9/SAMD9L 综合征中的临床演变、遗传图谱和克隆性造血轨迹。
Nat Med. 2021 Oct;27(10):1806-1817. doi: 10.1038/s41591-021-01511-6. Epub 2021 Oct 7.
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SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression.SAMD9L 自身炎症或小脑共济失调全血细胞减少症突变激活细胞自主翻译抑制。
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10
Somatic mosaicism in inherited bone marrow failure syndromes.遗传性骨髓衰竭综合征中的体体细胞嵌合现象。
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本文引用的文献

1
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.胚系 SAMD9 和 SAMD9L 突变与广泛的遗传进化和多种血液学结果相关。
JCI Insight. 2018 Jul 26;3(14). doi: 10.1172/jci.insight.121086.
2
SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies.SAMD9 和 SAMD9L 在遗传性共济失调、全血细胞减少症和髓系恶性肿瘤中的作用。
Leukemia. 2018 May;32(5):1106-1115. doi: 10.1038/s41375-018-0074-4. Epub 2018 Feb 25.
3
Constitutional mutations cause familial myelodysplastic syndrome and transient monosomy 7.基因突变导致家族性骨髓增生异常综合征和短暂单体 7 号染色体。
Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7.
4
A landscape of germ line mutations in a cohort of inherited bone marrow failure patients.一组遗传性骨髓衰竭患者的种系突变景观。
Blood. 2018 Feb 15;131(7):717-732. doi: 10.1182/blood-2017-09-806489. Epub 2017 Nov 16.
5
Recognition of familial myeloid neoplasia in adults.成人家族性髓系肿瘤的识别。
Semin Hematol. 2017 Apr;54(2):60-68. doi: 10.1053/j.seminhematol.2016.11.003. Epub 2017 Apr 18.
6
Genetic predisposition to hematologic malignancies: management and surveillance.血液系统恶性肿瘤的遗传易感性：管理与监测
Blood. 2017 Jul 27;130(4):424-432. doi: 10.1182/blood-2017-02-735290. Epub 2017 Jun 9.
7
Haematopoietic stem and progenitor cells from human pluripotent stem cells.源自人类多能干细胞的造血干细胞和祖细胞。
Nature. 2017 May 25;545(7655):432-438. doi: 10.1038/nature22370. Epub 2017 May 17.
8
ETV6-RUNX1 Acute Lymphoblastic Leukaemia in Identical Twins.同卵双胞胎中的ETV6-RUNX1急性淋巴细胞白血病。
Adv Exp Med Biol. 2017;962:217-228. doi: 10.1007/978-981-10-3233-2_14.
9
Gain-of-function mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.功能获得性突变会引发血细胞减少、免疫缺陷、骨髓增生异常综合征及神经症状的综合征。
Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15.
10
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.共济失调-全血细胞减少综合征由SAMD9L基因的错义突变引起。
Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009.

A novel germline mutation in a family with ataxia-pancytopenia syndrome and pediatric acute lymphoblastic leukemia.

作者信息

Cheah Jesse J C, Brown Anna L, Schreiber Andreas W, Feng Jinghua, Babic Milena, Moore Sarah, Young Chun-Chun, Fine Miriam, Phillips Kerry, Guandalini Michael, Wilson Peter, Poplawski Nicola, Hahn Christopher N, Scott Hamish S

机构信息

Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA.

Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA.

出版信息

Haematologica. 2019 Jul;104(7):e318-e321. doi: 10.3324/haematol.2018.207316. Epub 2019 Mar 28.

DOI:10.3324/haematol.2018.207316
PMID:30923096
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6601105/
Abstract
摘要