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Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.一名患有泽尔韦格谱系障碍和16p11.2缺失综合征患者的高胰岛素血症。
Mol Genet Metab Rep. 2020 Apr 28;23:100590. doi: 10.1016/j.ymgmr.2020.100590. eCollection 2020 Jun.
2
Chemogenetic Activation of Prefrontal Cortex Rescues Synaptic and Behavioral Deficits in a Mouse Model of 16p11.2 Deletion Syndrome.化学遗传学激活前额叶皮层可挽救 16p11.2 缺失综合征小鼠模型中的突触和行为缺陷。
J Neurosci. 2018 Jun 27;38(26):5939-5948. doi: 10.1523/JNEUROSCI.0149-18.2018. Epub 2018 May 31.
3
Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.由PEX6基因突变引起的迟发性泽韦格谱障碍，酷似X连锁肾上腺脑白质营养不良。
Pediatr Neurol. 2014 Aug;51(2):262-5. doi: 10.1016/j.pediatrneurol.2014.03.020. Epub 2014 Mar 28.
4
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.高胰岛素血症性低血糖症：16p11.2缺失综合征的一种新表现形式。
Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.
5
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.16p11.2缺失但非16p11.2重复的儿童听觉诱发M100反应潜伏期延迟。
Cereb Cortex. 2016 May;26(5):1957-64. doi: 10.1093/cercor/bhv008. Epub 2015 Feb 11.
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Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.一名患有轻度泽尔韦格谱系障碍患者中PEX10新突变的鉴定：病例报告
J Med Case Rep. 2017 Aug 8;11(1):218. doi: 10.1186/s13256-017-1365-5.
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16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions.16p11.2缺失综合征小鼠在社交互动中表现出感觉和超声发声缺陷。
Autism Res. 2015 Oct;8(5):507-21. doi: 10.1002/aur.1465. Epub 2015 Feb 7.
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Biochemical and genetic characterization of an unusual mild PEX3-related Zellweger spectrum disorder.一种罕见的轻度与PEX3相关的泽尔韦格谱系障碍的生化和遗传学特征
Mol Genet Metab. 2017 Aug;121(4):325-328. doi: 10.1016/j.ymgme.2017.06.004. Epub 2017 Jun 17.
9
Pharmacological Inhibition of ERK Signaling Rescues Pathophysiology and Behavioral Phenotype Associated with 16p11.2 Chromosomal Deletion in Mice.ERK 信号的药理学抑制挽救了与小鼠 16p11.2 染色体缺失相关的病理生理学和行为表型。
J Neurosci. 2018 Jul 25;38(30):6640-6652. doi: 10.1523/JNEUROSCI.0515-17.2018. Epub 2018 Jun 22.
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Analysis of peroxisomes in lymphoblasts: Zellweger syndrome and a patient with a deletion in chromosome 7.淋巴母细胞中过氧化物酶体的分析：齐-韦二氏综合征及一名7号染色体缺失患者
Pediatr Res. 1993 May;33(5):441-4. doi: 10.1203/00006450-199305000-00004.

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1
The pleiotropic spectrum of proximal 16p11.2 CNVs.近端 16p11.2 CNVs 的多效性谱。
Am J Hum Genet. 2024 Nov 7;111(11):2309-2346. doi: 10.1016/j.ajhg.2024.08.015. Epub 2024 Sep 26.
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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.评估 100 例荷兰 16p11.2 缺失和重复综合征病例：从临床表现到个性化治疗选择。
Eur J Hum Genet. 2024 Nov;32(11):1387-1401. doi: 10.1038/s41431-024-01601-2. Epub 2024 Apr 11.
3
Syndromic forms of congenital hyperinsulinism.先天性高胰岛素血症的综合征形式。
Front Endocrinol (Lausanne). 2023 Mar 30;14:1013874. doi: 10.3389/fendo.2023.1013874. eCollection 2023.
4
16pdel lipid changes in iPSC-derived neurons and function of FAM57B in lipid metabolism and synaptogenesis.人诱导多能干细胞衍生神经元中16号染色体短臂缺失的脂质变化以及FAM57B在脂质代谢和突触形成中的作用
iScience. 2021 Dec 2;25(1):103551. doi: 10.1016/j.isci.2021.103551. eCollection 2022 Jan 21.
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SARS-CoV-2 infects and replicates in cells of the human endocrine and exocrine pancreas.SARS-CoV-2 感染并在人体内分泌和外分泌胰腺细胞中复制。
Nat Metab. 2021 Feb;3(2):149-165. doi: 10.1038/s42255-021-00347-1. Epub 2021 Feb 3.

本文引用的文献

1
Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder.肝脏疾病在轻度人类 Zellweger 谱系障碍的小鼠模型中占主导地位。
Biochim Biophys Acta Mol Basis Dis. 2019 Oct 1;1865(10):2774-2787. doi: 10.1016/j.bbadis.2019.06.013. Epub 2019 Jun 15.
2
Hyperinsulinaemic hypoglycaemia: A new presentation of 16p11.2 deletion syndrome.高胰岛素血症性低血糖症：16p11.2缺失综合征的一种新表现形式。
Clin Endocrinol (Oxf). 2019 May;90(5):766-769. doi: 10.1111/cen.13951. Epub 2019 Mar 7.
3
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines.过氧化物酶体生物发生障碍的泽尔韦格谱系：当前诊断、临床表现及治疗指南概述
Mol Genet Metab. 2016 Mar;117(3):313-21. doi: 10.1016/j.ymgme.2015.12.009. Epub 2015 Dec 23.
4
High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.泽尔韦格谱系障碍中原发性肾上腺皮质功能减退的高患病率。
Orphanet J Rare Dis. 2014 Sep 2;9:133. doi: 10.1186/s13023-014-0133-5.
5
Biochemistry of mammalian peroxisomes revisited.哺乳动物过氧化物酶体生物化学再探讨。
Annu Rev Biochem. 2006;75:295-332. doi: 10.1146/annurev.biochem.74.082803.133329.
6
Cerebro-hepato-renal syndrome of Zellweger. Two patients with islet cell hyperplasia, hypoglycemia, and thymic anomalies, and comments on iron metabolism.泽尔韦格脑肝肾综合征。两名患有胰岛细胞增生、低血糖和胸腺异常的患者，并对铁代谢的评论。
Am J Dis Child. 1972 Dec;124(6):840-4. doi: 10.1001/archpedi.1972.02110180042005.

Hyperinsulinism in a patient with a Zellweger Spectrum Disorder and a 16p11.2 deletion syndrome.

作者信息

Hoytema van Konijnenburg Eva M M, Luirink Ilse K, Schagen Sebastian E E, Engelen Marc, Berendse Kevin, Poll-The Bwee Tien, Chegary Malika

机构信息

Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, Meibergdreef 9 1105, AZ, Amsterdam, the Netherlands.

Department of Pediatrics, OLVG Hospital, Jan Tooropstraat 164 1061 AE, Amsterdam, the Netherlands.

出版信息

Mol Genet Metab Rep. 2020 Apr 28;23:100590. doi: 10.1016/j.ymgmr.2020.100590. eCollection 2020 Jun.

DOI:10.1016/j.ymgmr.2020.100590
PMID:32373468
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7191845/
Abstract
摘要